34:
565:
866:
669:
588:) gene. This gene encodes a protein called fibroblast growth factor receptor 3, which contributes to the production of collagen and other structural components in tissues and bones. When the FGFR3 gene is mutated it interferes with how this protein interacts with growth factors leading to complications with bone production. Cartilage is not able to fully develop into bone, causing the individual to be disproportionately shorter in height.
573:
845:
the condition from the start and associates it with destructive anxiety, it significantly damages the individual's self-image and leads to their social exclusion. Thus, the author hypothesizes, an accepting environment is crucial to prevent significant suffering for individuals with achondroplasia and to ensure the best outcomes for corrective interventions, rather than perpetuating rejection.
832:. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births. Another study at the same time found a rate of 1 per 10,000. A 2020 review and meta-analysis estimated a worldwide prevalence of 4.6 per 100,000.
1957:
The postnatal diagnosis of achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds) and radiographic (that is, characteristic pelvis with short and square ilia, narrow sacro-sciatic notches and
1306:
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco
912:
was created by humans through the selective breeding of common domestic sheep with achondroplasia. The average-sized torso combined with the relatively smaller legs produced by achondroplasia was valued for making affected sheep less likely to escape without affecting the amount of wool or meat each
896:
A similar form of achondroplasia was found in a litter of piglets from a phenotypically normal Danish sow. The dwarfism was inherited dominant in the offspring from this litter. The piglets were born phenotypically normal but became more and more symptomatic as they reached maturity. This involved a
844:
On the other hand, other investigators, such as Ancona, state that for many individuals in immediate environments that have natural acceptance of the condition from the beginning, their main challenge lies in adapting to a world designed for those without the condition. However, when society rejects
848:
Similarly, a study conducted in Japan by
Nishimura and Hanaki found that children with achondroplasia faced challenges related to their short stature, but there was no indication of psychosocial maladjustment. They hypothesized that focusing on coping strategies and self-efficacy may play a crucial
528:
Children with achondroplasia often have less muscle tone; because of this it is common for them to have delayed walking and motor skills. It is also common for children to have bowed legs, scoliosis, lordosis, arthritis, issues with joint flexibility, breathing problems, ear infections, and crowded
852:
Social support and peer connections can be important for individuals with achondroplasia. Support groups, online communities, and advocacy organizations can provide a sense of belonging and can help individuals with achondroplasia connect with others who understand their experiences. Additionally,
803:
are available to support patients and their caregivers with information that they can distribute to their physicians, who may not be familiar with the unique medical requirements of managing achondroplasia. Physician-oriented best practice guidelines are also available to guide physicians managing
555:
Pregnancy in women with achondroplasia is considered higher risk. Women with achondroplasia generally have their babies delivered through C-sections to prevent complications that could occur with a natural birth. Intelligence and life span are usually near normal, although craniocervical junction
840:
In addition to physical challenges, individuals with achondroplasia may also experience psychological challenges such as fear or negative perception of individuals with achondroplasia. Gollust et al. have indicated that adults with achondroplasia tend to have lower self-esteem, annual income,
776:
does not help people with achondroplasia, which involve a different hormonal pathway. Usually, the best results appear within the first and second year of therapy. After the second year of growth hormone therapy, beneficial bone growth decreases, so the therapy is not a satisfactory long-term
618:
Where achondroplasia is inherited, its pattern is autosomal dominant. In couples where one partner has achondroplasia there is a 50% chance of passing the disorder on to their child every pregnancy. In situations where both parents have achondroplasia there is a 50% chance the child will have
532:
Hydrocephalus is a severe effect associated with achondroplasia in children. This condition occurs when cerebrospinal fluid is not able to flow in and out of the skull because of how the spine narrows. This fluid build up is associated with an enlarged head, vomiting, lethargy, headaches, and
382:. Mutations in FGFR3 also cause achondroplasia related conditions including hypochondroplasia and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities resulting in severe
893:). Therefore, it seems unlikely that dogs and humans are achondroplastic for the same reasons. However, histological studies in some achondroplastic dog breeds have shown altered cell patterns in cartilage that are very similar to those observed in humans exhibiting achondroplasia.
841:
educational attainment, and overall quality of life (QOL) when compared to their unaffected siblings. Interestingly, the Golust study revealed that the subjects were as likely to cite disadvantages relating to social barriers as those relating to health issues and functioning.
708:
kyphosis and mid-face hypoplasia. Complications like dental malocclusion, hydrocephalus and repeated otitis media can be observed. The risk of death in infancy is increased due to the likelihood of compression of the spinal cord with or without upper airway obstruction.
637:; it has been theorized that sperm carrying the mutation in FGFR3 have a selective advantage over sperm with normal FGFR3. The frequency of mutations in sperm leading to achondroplasia increases in proportion to paternal age, as well as in proportion to exposure to
2294:
Kitoh H, Kitakoji T, Tsuchiya H, Katoh M, Ishiguro N (2007). "Distraction osteogenesis of the lower extremity in patients that have achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma".
798:
Research has also shown that introducing parents of children with achondroplasia to support and advocacy groups at the time of diagnosis can improve outcomes. Several patient advocacy groups exist to support people with achondroplasia and their families.
2629:
White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC, On behalf of the
Skeletal Dysplasia Management Consortium (1 October 2017).
2378:
Although evidence in this area is scarce, limb lengthening is advised in some countries and not recommended in others. ... The timing of limb lengthening varies and has been performed from early childhood to adult life in individuals with
2528:
on behalf of the
Skeletal Dysplasia Management Consortium, Savarirayan R, Tunkel DE, Sterni LM, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, White KK (1 December 2021).
1307:
DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J (5 September 2020). "Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial".
2468:
White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R, on behalf of the
Skeletal Dysplasia Management Consortium (24 December 2020).
3209:
3194:
1734:
704:. Postnatal diagnosis of achondroplasia is typically uncomplicated, involving an assessment of physical and radiographic features. Clinical features include megalocephaly, short limbs, prominent forehead,
2127:"The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans"
794:
will increase the length of the legs and arms of someone with achondroplasia, but little medical consensus exists regarding this practice. The age of surgery can vary from early childhood to adulthood.
315:
is typically of normal length. Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females. Other features can include an
611:) before or shortly after birth. This occurs due to respiratory failure from an underdeveloped ribcage. People with achondroplasia are often born to parents that do not have the condition due to
595:
has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active, and this leads to severely shortened bones. This is an example of a
362:
mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. About 80% of cases occur in children of parents without the disease, and result from a new (
772:
There is no known cure for achondroplasia even though the cause of the mutation in the growth factor receptor has been found. Although used by those without achondroplasia to aid in growth,
3030:
Braund KG, Ghosh P, Taylor TK, Larsen LH (September 1975). "Morphological studies of the canine intervertebral disc. The assignment of the beagle to the achondroplastic classification".
383:
332:
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in 2013 indicated that in humans this defect may be exclusively inherited from the father and becomes increasingly probable with paternal age, specifically males reproducing after 35.
545:
Adults with achondroplasia often face issues with obesity and sleep apnea. It is also typical for adults to experience numbness or tingling in their legs because of nerve compression.
922:
641:. The occurrence rate of achondroplasia in the children of fathers over 50 years of age is 1 in 1,875, compared to 1 in 15,000 in the general population. Research by
452:
Short fingers and toes, with "trident hands" (short hands with stubby fingers, and a separation between the middle and ring fingers – reminiscent of a trident on fetal ultrasound )
1135:
White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R (1 January 2016).
745:
features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often "
3826:
2588:
Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK (1 December 2018).
889:
breeds. Data from whole genome association studies in short-limbed dogs reveal a strong association of this trait with a retro-gene coding for fibroblast growth factor 4 (
857:, The Little People of America (LPA) is a national organization that provides support, resources, and advocacy for individuals with dwarfism, including achondroplasia.
4318:
721:, and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed
1958:
narrowing interpedicular distances in the lumbar vertebral spine progressing from L1 to L5) features enables accurate diagnosis in most people with achondroplasia.
2166:
Aviezer D, Golembo M, Yayon A (30 June 2003). "Fibroblast Growth Factor
Receptor-3 as a Therapeutic Target for Achondroplasia - Genetic Short Limbed Dwarfism".
1426:
4535:
393:), approved to improve growth velocity in children with achondroplasia based on results in Phase 3 human trials, although its long-term effects are unknown.
3065:
Nielsen VH, Bendixen C, Arnbjerg J, et al. (December 2000). "Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen".
4454:
3723:
2762:
Gollust SE, Thompson RE, Gooding HC, Biesecker BB (2003). "Living with achondroplasia in an average-sized world: An assessment of quality of life".
784:
is used to improve growth velocity in children with achondroplasia, although its long-term effects are unknown. Vosoritide inhibits the activity of
4174:
3819:
33:
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3342:
725:. The iliac wings are small and squared, with a narrow sciatic notch and horizontal acetabular roof. The tubular bones are short and thick with
3146:
804:
the spinal disorders, foramen magnum stenosis, craniofacial implications, pregnancy, and peri-operative needs of people with achondroplasia.
2044:
873:
Based on their disproportionate dwarfism, some dog breeds traditionally have been classified as "achondroplastic". This is the case for the
3919:
429:. Nonprofit physician organizations also exist to disseminate information about treatment and management options, including development of
853:
these communities can serve as a resource for information and support for both individuals with achondroplasia and their families. In the
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696:, although signs are often subtle and not apparent before the 24th week of pregnancy. A DNA test can be performed before birth to detect
4331:
3903:
2393:"International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia"
2340:"International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia"
2072:"International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia"
1919:"International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia"
1867:"International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia"
1109:
Pauli RM, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Mefford HC, Stephens K, Amemiya A, Ledbetter N (2012). "Achondroplasia".
4584:
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Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize.
2848:"Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: A nationwide survey in Japan"
619:
achondroplasia, 25% chance the child will not, and a 25% chance that the child will inherit the gene from both parents resulting in
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3986:
3404:
1474:"Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: A targeted literature review"
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Studies have demonstrated that new gene mutations for achondroplasia are exclusively inherited from the father and occur during
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1982:
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2005:"A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review"
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from breathing difficulties. The condition is generally diagnosed based on the clinical features but may be confirmed by
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Ultrasound findings of achondroplasia are generally not apparent until 24 weeks of gestation and are often quite subtle.
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One therapy offered to ACH patients is treatment with recombinant human growth (r-hGH) (approved today only in Japan).
1730:"Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm"
777:
treatment. As of
December 2020, the treatment of achondroplasia with human growth hormone was approved only in Japan.
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length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended.
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4408:
4396:
358:. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an
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4525:
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307:. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the
3108:
Gidney L (May–June 1019). "Earliest
Archaeological Evidence of the Ancon Mutation in Sheep from Leicester, UK".
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2443:
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Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D (2006).
646:
371:
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Jones, T.C., Hunt, R.D. (1979). "The musculoskeletal system". In Jones, T.C., Hunt, R.D., Smith, H.A. (eds.).
1522:
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817:
1137:"Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy"
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717:
A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow
4572:
2590:"Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia"
682:(1656), showing Maribarbola and Nicolasito Pertusato (right), achondroplastic dwarfs in the entourage of
607:
gene being sufficient to cause achondroplasia, while two copies of the mutant gene are invariably fatal (
537:
is commonly performed to treat this condition, but an endoscopic third ventriculostomy can also be done.
370:. The rest are inherited from a parent with the condition. The risk of a new mutation increases with the
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523:
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Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Legare JM (1993).
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261:
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2975:"An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs"
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2003:
EL-Sobky TA, Shawky RM, Sakr HM, Elsayed SM, Elsayed NS, Ragheb SG, Gamal R (15 November 2017).
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901:, encoded by the COL10A1 gene. In humans a similar mutation (G595E) has been associated with
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374:. In families with two affected parents, children who inherit both affected genes typically
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Achondroplasia is one of several congenital conditions with similar presentations, such as
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The Male
Biological Clock: The Startling News About Aging, Sexuality, and Fertility in Men
8:
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1401:"Achondroplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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1948:
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Richette P, Bardin T, Stheneur C (2007). "Achondroplasia: From genotype to phenotype".
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366:, or sporadic) mutation, which most commonly originates as a spontaneous change during
359:
208:
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2715:"Birth prevalence of achondroplasia: A systematic literature review and meta-analysis"
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2531:"Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia"
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700:, wherein two copies of the mutant gene are inherited, a lethal condition leading to
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741:, and a trident configuration. The ribs are short with cupped anterior ends. If the
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and underdevelopment of the midface (midface hypoplasia). Complications can include
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2471:"Best practice guidelines for management of spinal disorders in skeletal dysplasia"
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905:(SMCD), a relatively mild skeletal disorder that is also associated with dwarfism.
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2632:"Best practices in peri-operative management of patients with skeletal dysplasias"
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788:. It has been gradually made available in different countries starting from 2021.
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Mother and child with achondroplasia with unaffected father, showing inheritance
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Kovac JR, Addai J, Smith RP, Coward RM, Lamb DJ, Lipshultz LI (November 2013).
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Proceedings of the
National Academy of Sciences of the United States of America
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role in promoting psychological well-being among children with achondroplasia.
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Treatments include small molecule therapy with a C-natriuretic peptide analog (
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Introducing parents to advocacy and support groups has been proven beneficial.
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There are two other syndromes with a genetic basis similar to achondroplasia:
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teeth. These issues can be treated with surgery, braces, or physical therapy.
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2255:"C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia"
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Some research has found that adults with achondroplasia may also experience
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with an autosomal dominant pattern of inheritance whose primary feature is
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Genetic and Rare
Diseases Information Center (GARD) – an NCATS Program
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Foreman PK, Kessel F, Hoorn R, Bosch J, Shediac R, Landis S (2020).
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Constantinides C, Landis SH, Jarrett J, Quinn J, Ireland PJ (2021).
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may also be used. Efforts to treat or prevent complications such as
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short-limb skeletal dysplasia with severe combined immunodeficiency
333:
short-limb skeletal dysplasia with severe combined immunodeficiency
304:
2915:(5th ed.). Philadelphia: Lea & Febiger. pp. 1175–6.
2203:"Novel therapeutic approaches for the treatment of achondroplasia"
1270:
Legare JM (1993), Adam MP, Feldman J, Mirzaa GM, Pagon RA (eds.),
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List of radiographic findings associated with cutaneous conditions
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Another common characteristic of the syndrome is thoracolumbar
486:
2973:
Parker HG, VonHoldt BM, Quignon P, et al. (August 2009).
426:
126:
4579:
4555:
4181:
3981:
3946:
754:
494:
312:
213:
2884:
Little People of America. (n.d.). About LPA. Retrieved from
1305:
1053:
Horton WA, Hall JG, Hecht JT (July 2007). "Achondroplasia".
422:
4542:
4466:
4442:
4072:
4027:
3482:
1972:
1727:
890:
347:
138:
132:
123:
108:
102:
99:
93:
81:
60:
44:, an American actor and stunt performer with achondroplasia
2628:
2293:
2037:
1134:
69:
2939:"Inheritance of specific skeletal and structural defects"
2805:
Ancona L (1988). "The Psychodynamics of Achondroplasia".
2002:
1130:
1128:
2200:
3064:
3029:
2809:. Basic Life Sciences. Vol. 48. pp. 447–451.
2712:
1448:"Hydrocephalus – Diagnosis and treatment – Mayo Clinic"
1427:"Achondroplasia | Johns Hopkins Pediatric Neurosurgery"
3834:
3160:. In Pagon RA, Bird TD, Dolan CR, et al. (eds.).
1968:
1966:
1671:
1542:
1125:
1108:
552:
complications, usually associated with short stature.
171:
Short arms and legs, enlarged head, prominent forehead
4536:
Junctional epidermolysis bullosa with pyloric atresia
2972:
2910:
2467:
1788:
96:
72:
66:
63:
3176:
2125:
Vajo Z, Francomano CA, Wilkin DJ (1 February 2000).
2124:
733:
overgrowth is present. The hand is broad with short
556:
compression increases the risk of death in infancy.
120:
117:
90:
87:
78:
75:
2165:
1963:
1791:"The effects of advanced paternal age on fertility"
1278:, Seattle (WA): University of Washington, Seattle,
835:
114:
84:
16:
Genetic condition, the most common form of dwarfism
2937:
421:support people with achondroplasia, including the
3724:Autosomal recessive multiple epiphyseal dysplasia
3164:. Seattle WA: University of Washington, Seattle.
1195:"Achondroplasia: A comprehensive clinical review"
729:cupping and flaring and irregular growth plates.
4608:
4175:Congenital insensitivity to pain with anhidrosis
1571:National Human Genome Research Institute (NHGRI)
2845:
1616:
1052:
689:Achondroplasia can be detected before birth by
645:Harry Fisch of the Male Reproductive Center at
1998:
1996:
1994:
1977:(1st ed.). Knutsford, Cheshire: PasTest.
338:Achondroplasia is caused by a mutation in the
3820:
3336:
2948:. Great Britain: Howell Book House. pp.
2594:American Journal of Obstetrics and Gynecology
2194:
2120:
2118:
1975:Essential questions in paediatrics for MRCPCH
753:by progressive discordance between the short
331:. Achondroplasia includes the extremely rare
3920:Gonadotropin-releasing hormone insensitivity
2287:
1973:Beattie, R.M., Champion, M.P., eds. (2004).
1782:
1721:
1665:
1048:
1046:
1044:
1042:
4336:Congenital amegakaryocytic thrombocytopenia
2935:
2719:American Journal of Medical Genetics Part A
2636:American Journal of Medical Genetics Part A
2252:
1991:
1837:
1141:American Journal of Medical Genetics Part A
461:Small midface with a flattened nasal bridge
4421:Autoimmune lymphoproliferative syndrome 1A
3904:Follicle-stimulating hormone insensitivity
3827:
3813:
3350:
3343:
3329:
2115:
1617:Horton WA, Hall JG, Hecht JT (July 2007).
1015:
1013:
1011:
1009:
1007:
580:Achondroplasia is caused by a mutation in
4585:X-linked severe combined immunodeficiency
4361:TNF receptor associated periodic syndrome
3110:International Journal of Osteoarchaeology
3006:
2738:
2655:
2605:
2564:
2546:
2504:
2486:
2408:
2355:
2270:
2218:
2142:
2087:
2020:
1934:
1882:
1831:
1814:
1765:
1755:
1489:
1220:
1210:
1104:
1102:
1100:
1098:
1096:
1094:
1092:
1039:
1005:
1003:
1001:
999:
997:
995:
993:
991:
989:
987:
445:Shortening of the proximal limbs (called
3155:
864:
667:
571:
563:
4373:Selective immunoglobulin A deficiency 2
3964:Aspirin-exacerbated respiratory disease
2693:
2691:
2201:Legeai-Mallet L, Savarirayan R (2020).
4609:
4548:EDAR hypohidrotic ectodermal dysplasia
4476:Familial exudative vitreoretinopathy 4
4033:Familial exudative vitreoretinopathy 1
3428:Spondyloepiphyseal dysplasia congenita
3107:
3101:
2804:
2798:
1269:
1237:
1089:
984:
749:". The diagnosis can be made by fetal
712:
4240:Hereditary hemorrhagic telangiectasia
4216:Persistent Müllerian duct syndrome II
3987:Jansen's metaphyseal chondrodysplasia
3808:
3405:Jansen's metaphyseal chondrodysplasia
3324:
1590:
1547:. University of Washington, Seattle.
1301:
1299:
1192:
436:
4561:Nevoid basal-cell carcinoma syndrome
4010:Familial hypocalciuric hypercalcemia
3752:Rhizomelic chondrodysplasia punctata
2764:American Journal of Medical Genetics
2688:
1844:. Simon and Schuster. pp. 11–.
1520:
376:die before birth or in early infancy
321:prominent forehead (frontal bossing)
4324:Surfactant metabolism dysfunction 4
3438:Otospondylomegaepiphyseal dysplasia
3410:Schmid metaphyseal chondrodysplasia
2886:https://www.lpaonline.org/about-lpa
2878:
2698:Online Mendelian Inheritance in Man
2391:Savarirayan R, et al. (2021).
2338:Savarirayan R, et al. (2021).
2070:Savarirayan R, et al. (2021).
1917:Savarirayan R, et al. (2021).
1865:Savarirayan R, et al. (2021).
1424:
903:Schmid metaphyseal chondrodysplasia
582:fibroblast growth factor receptor 3
455:Large head with prominent forehead
340:fibroblast growth factor receptor 3
13:
4617:Cell surface receptor deficiencies
4573:BMPR1A juvenile polyposis syndrome
4494:LDLR Familial hypercholesterolemia
1296:
14:
4653:
3884:Luteinizing hormone insensitivity
3140:
2535:Orphanet Journal of Rare Diseases
2475:Orphanet Journal of Rare Diseases
1838:Harry Fisch (24 September 2013).
1199:Orphanet Journal of Rare Diseases
3952:Nephrogenic diabetes insipidus 1
3778:Short rib – polydactyly syndrome
836:Psychological and social aspects
512:
56:
32:
3892:Male-limited precocious puberty
3783:Majewski's polydactyly syndrome
3058:
3023:
2966:
2929:
2904:
2890:
2839:
2755:
2706:
2622:
2581:
2521:
2461:
2436:
2384:
2331:
2259:New England Journal of Medicine
2246:
2159:
2063:
1910:
1858:
1700:
1610:
1584:
1567:"Learning About Achondroplasia"
1559:
1536:
1514:
1465:
1440:
1418:
1393:
1368:
1343:
807:
4279:Leber's congenital amaurosis 1
4191:Gastrointestinal stromal tumor
2846:Nishimura N, Hanaki K (2014).
1263:
977:Merriam-Webster.com Dictionary
964:
935:
647:Columbia Presbyterian Hospital
568:Autosomal dominant inheritance
423:Little People of America (LPA)
1:
3557:Hereditary multiple exostoses
3501:Polyostotic fibrous dysplasia
3433:Multiple epiphyseal dysplasia
3044:10.1016/S0034-5288(18)33527-6
2253:Savarirayan R (4 July 2019).
1635:10.1016/s0140-6736(07)61090-3
1491:10.1080/09638288.2021.1963853
1478:Disability and Rehabilitation
1321:10.1016/S0140-6736(20)31541-5
1067:10.1016/S0140-6736(07)61090-3
928:
818:multiple epiphyseal dysplasia
3790:Léri–Weill dyschondrosteosis
2815:10.1007/978-1-4684-8712-1_56
2702:ACHONDROPLASIA; ACH - 100800
2397:Nature Reviews Endocrinology
2344:Nature Reviews Endocrinology
2309:10.1097/BPO.0b013e318093f523
2076:Nature Reviews Endocrinology
1923:Nature Reviews Endocrinology
1871:Nature Reviews Endocrinology
1686:10.1016/j.jbspin.2007.06.007
767:
663:
282:, treatment of complications
7:
3872:Congenital hypothyroidism 1
2852:Journal of Clinical Nursing
916:
626:and leading to lethal bone
517:
10:
4658:
4627:Connective tissue diseases
4531:Glanzmann's thrombasthenia
4511:Immunoglobulin superfamily
4163:Rabson–Mendenhall syndrome
3845:G protein-coupled receptor
3757:Conradi–Hünermann syndrome
3382:Camurati–Engelmann disease
2607:10.1016/j.ajog.2018.07.017
2548:10.1186/s13023-021-01678-8
2488:10.1186/s13023-020-01415-7
2410:10.1038/s41574-021-00595-x
2357:10.1038/s41574-021-00595-x
2220:10.1016/j.bone.2020.115579
2089:10.1038/s41574-021-00595-x
1936:10.1038/s41574-021-00595-x
1884:10.1038/s41574-021-00595-x
1795:Asian Journal of Andrology
860:
603:, with one variant of the
524:Achondroplasia in children
521:
4503:
4430:
4385:Hyper-IgM syndrome type 3
4345:
4292:
4263:
4200:
4062:
4046:
4019:
3996:
3973:
3858:
3843:
3765:
3744:Chondrodysplasia punctata
3742:
3729:Atelosteogenesis, type II
3699:
3666:
3631:
3612:
3603:
3567:
3540:
3520:
3474:
3446:
3418:
3390:
3372:
3358:
3261:
3180:
1405:rarediseases.info.nih.gov
1212:10.1186/s13023-018-0972-6
899:collagen, type X, alpha 1
559:
540:
442:Disproportionate dwarfism
286:
271:
262:cartilage-hair hypoplasia
247:
233:
221:
203:
175:
165:
153:
48:
40:
31:
26:
4460:Cenani–Lenz syndactylism
4302:Type I cytokine receptor
3940:Hirschsprung's disease 2
3506:McCune–Albright syndrome
3287:article/1258401-overview
2942:. In Willis M.B. (ed.).
2180:10.2174/1389450033490993
2009:J Musculoskelet Surg Res
897:mutation of the protein
599:mutation. The effect is
482:(knock knee) deformities
4142:Thanatophoric dysplasia
3936:Waardenburg syndrome 4a
3654:Thanatophoric dysplasia
2999:10.1126/science.1173275
2045:"Achondroplasia Pelvis"
2022:10.4103/jmsr.jmsr_28_17
1757:10.1073/pnas.0506468103
1597:Genetics Home Reference
1025:Genetics Home Reference
954:Oxford University Press
830:thanatophoric dysplasia
814:osteogenesis imperfecta
658:thanatophoric dysplasia
591:In normal development,
407:obstructive sleep apnea
309:arms and legs are short
258:thanatophoric dysplasia
4596:cell surface receptors
4448:Donnai–Barrow syndrome
4122:Jackson–Weiss syndrome
4110:Antley–Bixler syndrome
4094:KAL2 Kallmann syndrome
4048:Enzyme-linked receptor
3888:Leydig cell hypoplasia
3623:Antley–Bixler syndrome
3605:Growth factor receptor
3352:Osteochondrodysplasias
2144:10.1210/edrv.21.1.0387
870:
780:A small-molecule drug
686:
577:
569:
468:(convex curvature) or
395:Growth hormone therapy
280:growth hormone therapy
249:Differential diagnosis
3908:XX gonadal dysgenesis
3836:Cell surface receptor
3734:Diastrophic dysplasia
3400:Metaphyseal dysplasia
3079:10.1007/s003350010212
2448:Beyond Achondroplasia
2272:10.1056/NEJMoa1813446
950:UK English Dictionary
868:
671:
575:
567:
411:middle ear infections
42:Jason "Wee Man" Acuña
4622:Congenital disorders
4254:Loeys–Dietz syndrome
2936:Willis M.B. (1989).
2913:Veterinary Pathology
2858:(21–22): 3045–3056.
2807:Human Achondroplasia
2776:10.1002/ajmg.a.20127
2731:10.1002/ajmg.a.61787
2648:10.1002/ajmg.a.38357
2168:Current Drug Targets
1153:10.1002/ajmg.a.37394
960:on 11 December 2019.
774:human growth hormone
613:spontaneous mutation
601:genetically dominant
350:that results in its
266:pseudoachondroplasia
3773:Fibrochondrogenesis
3551:osteochondromatosis
3489:Boomerang dysplasia
2991:2009Sci...325..995P
2945:Genetics of the Dog
1807:10.1038/aja.2013.92
1748:2006PNAS..103.9601W
713:Radiologic findings
472:(concave curvature)
239:Based on symptoms,
4224:TGF beta receptors
3691:Hypochondrogenesis
3262:External resources
2864:10.1111/jocn.12531
2051:on 22 October 2007
1315:(10252): 684–692.
980:. Merriam-Webster.
871:
869:Munchkin dwarf cat
687:
639:ionizing radiation
578:
570:
493:blockages), sleep
437:Signs and symptoms
360:autosomal dominant
290:1 in 27,500 people
209:autosomal dominant
4604:
4603:
4288:
4287:
4138:Hypochondroplasia
4114:Pfeiffer syndrome
4090:Pfeiffer syndrome
4042:
4041:
3802:
3801:
3798:
3797:
3662:
3661:
3647:Hypochondroplasia
3593:Maffucci syndrome
3516:
3515:
3318:
3317:
3156:Pauli RM (1998).
2824:978-1-4684-8714-5
2725:(10): 2297–2316.
2642:(10): 2584–2595.
2131:Endocrine Reviews
1984:978-1-901198-99-7
1851:978-1-4767-4082-9
1742:(25): 9601–9606.
1629:(9582): 162–172.
1484:(21): 6166–6178.
1193:Pauli RM (2019).
1061:(9582): 162–172.
684:Infanta Margarita
654:hypochondroplasia
431:patient resources
417:may be required.
372:age of the father
294:
293:
254:Hypochondroplasia
235:Diagnostic method
21:Medical condition
4649:
4637:Growth disorders
4158:Donohue syndrome
4118:Crouzon syndrome
4078:Robinow syndrome
4060:
4059:
3856:
3855:
3829:
3822:
3815:
3806:
3805:
3704:sulfation defect
3671:collagen disease
3610:
3609:
3582:enchondromatosis
3538:
3537:
3527:chondrodystrophy
3522:Chondrodysplasia
3496:Opsismodysplasia
3370:
3369:
3345:
3338:
3331:
3322:
3321:
3178:
3177:
3173:
3158:"Achondroplasia"
3134:
3133:
3105:
3099:
3098:
3062:
3056:
3055:
3027:
3021:
3020:
3010:
2970:
2964:
2963:
2941:
2933:
2927:
2926:
2908:
2902:
2901:
2894:
2888:
2882:
2876:
2875:
2843:
2837:
2836:
2802:
2796:
2795:
2759:
2753:
2752:
2742:
2710:
2704:
2695:
2686:
2685:
2659:
2626:
2620:
2619:
2609:
2585:
2579:
2578:
2568:
2550:
2525:
2519:
2518:
2508:
2490:
2465:
2459:
2458:
2456:
2454:
2440:
2434:
2433:
2412:
2388:
2382:
2381:
2359:
2335:
2329:
2328:
2297:J Pediatr Orthop
2291:
2285:
2284:
2274:
2250:
2244:
2243:
2222:
2198:
2192:
2191:
2163:
2157:
2156:
2146:
2122:
2113:
2112:
2091:
2067:
2061:
2060:
2058:
2056:
2047:. Archived from
2041:
2035:
2034:
2024:
2000:
1989:
1988:
1970:
1961:
1960:
1938:
1914:
1908:
1907:
1886:
1862:
1856:
1855:
1835:
1829:
1828:
1818:
1786:
1780:
1779:
1769:
1759:
1725:
1719:
1718:
1716:
1714:
1708:"Achondroplasia"
1704:
1698:
1697:
1674:Joint Bone Spine
1669:
1663:
1662:
1619:"Achondroplasia"
1614:
1608:
1607:
1605:
1603:
1588:
1582:
1581:
1579:
1577:
1563:
1557:
1556:
1545:"Achondroplasia"
1540:
1534:
1533:
1531:
1529:
1518:
1512:
1511:
1493:
1469:
1463:
1462:
1460:
1458:
1444:
1438:
1437:
1435:
1433:
1422:
1416:
1415:
1413:
1411:
1397:
1391:
1390:
1388:
1386:
1372:
1366:
1365:
1363:
1361:
1347:
1341:
1340:
1303:
1294:
1293:
1292:
1290:
1272:"Achondroplasia"
1267:
1261:
1260:
1258:
1256:
1245:"Achondroplasia"
1241:
1235:
1234:
1224:
1214:
1190:
1181:
1180:
1132:
1123:
1122:
1106:
1087:
1086:
1050:
1037:
1036:
1034:
1032:
1021:"Achondroplasia"
1017:
982:
981:
972:"Achondroplasia"
968:
962:
961:
956:. Archived from
943:"Achondroplasia"
939:
913:sheep produced.
908:The now extinct
792:Limb-lengthening
609:recessive lethal
597:gain of function
533:irritability. A
427:Growing Stronger
301:genetic disorder
211:mutation in the
160:Medical genetics
145:
144:
141:
140:
135:
134:
129:
128:
125:
122:
119:
116:
111:
110:
105:
104:
101:
98:
95:
92:
89:
86:
83:
80:
77:
74:
71:
68:
65:
62:
36:
24:
23:
4657:
4656:
4652:
4651:
4650:
4648:
4647:
4646:
4607:
4606:
4605:
4600:
4504:Other/ungrouped
4499:
4480:Osteopetrosis 1
4426:
4341:
4284:
4259:
4196:
4146:Muenke syndrome
4052:
4050:
4038:
4015:
3992:
3969:
3847:
3839:
3833:
3803:
3794:
3761:
3738:
3712:Achondrogenesis
3695:
3679:Achondrogenesis
3658:
3627:
3599:
3563:
3529:
3525:
3512:
3475:Other/ungrouped
3470:
3461:Osteopoikilosis
3442:
3414:
3386:
3363:
3354:
3349:
3319:
3314:
3313:
3257:
3256:
3189:
3143:
3138:
3137:
3116:(27): 318–321.
3106:
3102:
3073:(12): 1087–92.
3063:
3059:
3028:
3024:
2985:(5943): 995–8.
2971:
2967:
2960:
2934:
2930:
2923:
2909:
2905:
2896:
2895:
2891:
2883:
2879:
2844:
2840:
2825:
2803:
2799:
2760:
2756:
2711:
2707:
2696:
2689:
2627:
2623:
2586:
2582:
2526:
2522:
2466:
2462:
2452:
2450:
2442:
2441:
2437:
2389:
2385:
2379:achondroplasia.
2336:
2332:
2292:
2288:
2251:
2247:
2199:
2195:
2164:
2160:
2123:
2116:
2068:
2064:
2054:
2052:
2043:
2042:
2038:
2001:
1992:
1985:
1971:
1964:
1915:
1911:
1863:
1859:
1852:
1836:
1832:
1787:
1783:
1726:
1722:
1712:
1710:
1706:
1705:
1701:
1670:
1666:
1615:
1611:
1601:
1599:
1589:
1585:
1575:
1573:
1565:
1564:
1560:
1541:
1537:
1527:
1525:
1519:
1515:
1470:
1466:
1456:
1454:
1446:
1445:
1441:
1431:
1429:
1423:
1419:
1409:
1407:
1399:
1398:
1394:
1384:
1382:
1374:
1373:
1369:
1359:
1357:
1349:
1348:
1344:
1304:
1297:
1288:
1286:
1268:
1264:
1254:
1252:
1243:
1242:
1238:
1191:
1184:
1133:
1126:
1107:
1090:
1051:
1040:
1030:
1028:
1019:
1018:
985:
970:
969:
965:
941:
940:
936:
931:
919:
863:
838:
822:achondrogenesis
810:
770:
715:
680:Diego Velázquez
666:
635:spermatogenesis
562:
543:
526:
520:
515:
491:Eustachian tube
457:frontal bossing
439:
415:spinal stenosis
380:genetic testing
368:spermatogenesis
241:genetic testing
194:spinal stenosis
149:
137:
131:
113:
107:
59:
55:
22:
17:
12:
11:
5:
4655:
4645:
4644:
4639:
4634:
4629:
4624:
4619:
4602:
4601:
4599:
4598:
4593:
4589:
4588:
4576:
4564:
4539:
4538:
4533:
4528:
4518:
4517:
4507:
4505:
4501:
4500:
4498:
4497:
4484:
4483:
4472:Worth syndrome
4463:
4451:
4434:
4432:
4431:Lipid receptor
4428:
4427:
4425:
4424:
4412:
4400:
4388:
4376:
4364:
4351:
4349:
4343:
4342:
4340:
4339:
4328:
4327:
4315:
4312:Laron syndrome
4298:
4296:
4290:
4289:
4286:
4285:
4283:
4282:
4269:
4267:
4261:
4260:
4258:
4257:
4243:
4220:
4219:
4206:
4204:
4198:
4197:
4195:
4194:
4187:KIT Piebaldism
4178:
4166:
4160:
4149:
4134:Achondroplasia
4125:
4106:Apert syndrome
4097:
4081:
4068:
4066:
4057:
4044:
4043:
4040:
4039:
4037:
4036:
4023:
4021:
4017:
4016:
4014:
4013:
4000:
3998:
3994:
3993:
3991:
3990:
3977:
3975:
3971:
3970:
3968:
3967:
3955:
3943:
3923:
3911:
3895:
3875:
3862:
3860:
3853:
3841:
3840:
3832:
3831:
3824:
3817:
3809:
3800:
3799:
3796:
3795:
3793:
3792:
3787:
3786:
3785:
3775:
3769:
3767:
3766:Other dwarfism
3763:
3762:
3760:
3759:
3754:
3748:
3746:
3740:
3739:
3737:
3736:
3731:
3726:
3721:
3720:
3719:
3708:
3706:
3697:
3696:
3694:
3693:
3688:
3687:
3686:
3675:
3673:
3664:
3663:
3660:
3659:
3657:
3656:
3651:
3650:
3649:
3642:Achondroplasia
3638:
3636:
3629:
3628:
3626:
3625:
3619:
3617:
3607:
3601:
3600:
3598:
3597:
3596:
3595:
3590:
3588:Ollier disease
3577:
3575:
3565:
3564:
3562:
3561:
3560:
3559:
3546:
3544:
3542:Osteochondroma
3535:
3518:
3517:
3514:
3513:
3511:
3510:
3509:
3508:
3498:
3493:
3492:
3491:
3478:
3476:
3472:
3471:
3469:
3468:
3463:
3458:
3456:Raine syndrome
3452:
3450:
3448:Osteosclerosis
3444:
3443:
3441:
3440:
3435:
3430:
3424:
3422:
3416:
3415:
3413:
3412:
3407:
3402:
3396:
3394:
3388:
3387:
3385:
3384:
3378:
3376:
3367:
3365:osteodystrophy
3360:Osteodysplasia
3356:
3355:
3348:
3347:
3340:
3333:
3325:
3316:
3315:
3312:
3311:
3300:
3298:Achondroplasia
3289:
3278:
3266:
3265:
3263:
3259:
3258:
3255:
3254:
3243:
3232:
3221:
3206:
3190:
3185:
3184:
3182:
3181:Classification
3175:
3174:
3153:
3147:Achondroplasia
3142:
3141:External links
3139:
3136:
3135:
3122:10.1002/oa.872
3100:
3057:
3022:
2965:
2959:978-0876055519
2958:
2928:
2922:978-0812107890
2921:
2903:
2889:
2877:
2838:
2823:
2797:
2770:(4): 447–458.
2754:
2705:
2687:
2621:
2600:(6): 545–562.
2580:
2520:
2460:
2444:"Associations"
2435:
2403:(3): 173–189.
2383:
2350:(3): 173–189.
2330:
2286:
2245:
2193:
2174:(5): 353–365.
2158:
2114:
2082:(3): 173–189.
2062:
2036:
1990:
1983:
1962:
1929:(3): 173–189.
1909:
1877:(3): 173–189.
1857:
1850:
1830:
1801:(6): 723–728.
1781:
1720:
1699:
1664:
1609:
1591:Reference GH.
1583:
1558:
1535:
1513:
1464:
1452:mayoclinic.org
1439:
1417:
1392:
1380:kidshealth.org
1367:
1351:"Trident hand"
1342:
1295:
1262:
1236:
1182:
1124:
1088:
1038:
983:
963:
933:
932:
930:
927:
926:
925:
918:
915:
862:
859:
837:
834:
809:
806:
769:
766:
747:double jointed
719:foramen magnum
714:
711:
665:
662:
561:
558:
542:
539:
522:Main article:
519:
516:
514:
511:
510:
509:
497:(which can be
487:ear infections
483:
473:
462:
459:
453:
450:
443:
438:
435:
419:Support groups
329:ear infections
297:Achondroplasia
292:
291:
288:
284:
283:
276:Support groups
273:
269:
268:
251:
245:
244:
237:
231:
230:
225:
219:
218:
205:
201:
200:
182:Ear infections
179:
173:
172:
169:
163:
162:
157:
151:
150:
148:
147:
52:
50:
46:
45:
38:
37:
29:
28:
27:Achondroplasia
20:
15:
9:
6:
4:
3:
2:
4654:
4643:
4642:Rare diseases
4640:
4638:
4635:
4633:
4630:
4628:
4625:
4623:
4620:
4618:
4615:
4614:
4612:
4597:
4594:
4591:
4590:
4586:
4582:
4581:
4577:
4574:
4570:
4569:
4565:
4562:
4558:
4557:
4553:
4552:
4551:
4549:
4545:
4544:
4537:
4534:
4532:
4529:
4527:
4523:
4520:
4519:
4516:
4512:
4509:
4508:
4506:
4502:
4495:
4491:
4490:
4486:
4485:
4481:
4477:
4473:
4469:
4468:
4464:
4461:
4457:
4456:
4452:
4449:
4445:
4444:
4439:
4436:
4435:
4433:
4429:
4422:
4418:
4417:
4413:
4410:
4406:
4405:
4401:
4398:
4394:
4393:
4389:
4386:
4382:
4381:
4377:
4374:
4370:
4369:
4365:
4362:
4358:
4357:
4353:
4352:
4350:
4348:
4344:
4337:
4333:
4330:
4329:
4325:
4321:
4320:
4316:
4313:
4309:
4308:
4303:
4300:
4299:
4297:
4295:
4291:
4280:
4276:
4275:
4271:
4270:
4268:
4266:
4262:
4255:
4251:
4247:
4244:
4241:
4237:
4233:
4229:
4225:
4222:
4221:
4217:
4213:
4212:
4208:
4207:
4205:
4203:
4199:
4192:
4188:
4184:
4183:
4179:
4176:
4172:
4171:
4167:
4164:
4161:
4159:
4155:
4154:
4150:
4147:
4143:
4139:
4135:
4131:
4130:
4126:
4123:
4119:
4115:
4111:
4107:
4103:
4102:
4098:
4095:
4091:
4087:
4086:
4082:
4079:
4075:
4074:
4070:
4069:
4067:
4065:
4061:
4058:
4055:
4054:growth factor
4049:
4045:
4034:
4030:
4029:
4025:
4024:
4022:
4018:
4011:
4007:
4006:
4002:
4001:
3999:
3995:
3988:
3984:
3983:
3979:
3978:
3976:
3972:
3965:
3961:
3960:
3956:
3953:
3949:
3948:
3944:
3941:
3937:
3933:
3932:ABCD syndrome
3929:
3928:
3924:
3921:
3917:
3916:
3912:
3909:
3905:
3901:
3900:
3896:
3893:
3889:
3885:
3881:
3880:
3876:
3873:
3869:
3868:
3864:
3863:
3861:
3857:
3854:
3851:
3846:
3842:
3837:
3830:
3825:
3823:
3818:
3816:
3811:
3810:
3807:
3791:
3788:
3784:
3781:
3780:
3779:
3776:
3774:
3771:
3770:
3768:
3764:
3758:
3755:
3753:
3750:
3749:
3747:
3745:
3741:
3735:
3732:
3730:
3727:
3725:
3722:
3718:
3715:
3714:
3713:
3710:
3709:
3707:
3705:
3702:
3698:
3692:
3689:
3685:
3682:
3681:
3680:
3677:
3676:
3674:
3672:
3669:
3665:
3655:
3652:
3648:
3645:
3644:
3643:
3640:
3639:
3637:
3634:
3630:
3624:
3621:
3620:
3618:
3615:
3611:
3608:
3606:
3602:
3594:
3591:
3589:
3586:
3585:
3584:
3583:
3579:
3578:
3576:
3574:
3570:
3566:
3558:
3555:
3554:
3553:
3552:
3548:
3547:
3545:
3543:
3539:
3536:
3533:
3528:
3523:
3519:
3507:
3504:
3503:
3502:
3499:
3497:
3494:
3490:
3487:
3486:
3485:
3484:
3480:
3479:
3477:
3473:
3467:
3466:Osteopetrosis
3464:
3462:
3459:
3457:
3454:
3453:
3451:
3449:
3445:
3439:
3436:
3434:
3431:
3429:
3426:
3425:
3423:
3421:
3417:
3411:
3408:
3406:
3403:
3401:
3398:
3397:
3395:
3393:
3389:
3383:
3380:
3379:
3377:
3375:
3371:
3368:
3366:
3361:
3357:
3353:
3346:
3341:
3339:
3334:
3332:
3327:
3326:
3323:
3310:
3306:
3305:
3301:
3299:
3295:
3294:
3290:
3288:
3284:
3283:
3279:
3277:
3273:
3272:
3268:
3267:
3264:
3260:
3253:
3249:
3248:
3244:
3242:
3238:
3237:
3233:
3231:
3227:
3226:
3222:
3220:
3216:
3215:
3211:
3207:
3205:
3201:
3200:
3196:
3192:
3191:
3188:
3183:
3179:
3171:
3167:
3163:
3159:
3154:
3152:
3148:
3145:
3144:
3131:
3127:
3123:
3119:
3115:
3111:
3104:
3096:
3092:
3088:
3084:
3080:
3076:
3072:
3068:
3061:
3053:
3049:
3045:
3041:
3038:(2): 167–72.
3037:
3033:
3032:Res. Vet. Sci
3026:
3018:
3014:
3009:
3004:
3000:
2996:
2992:
2988:
2984:
2980:
2976:
2969:
2961:
2955:
2951:
2947:
2946:
2940:
2932:
2924:
2918:
2914:
2907:
2899:
2893:
2887:
2881:
2873:
2869:
2865:
2861:
2857:
2853:
2849:
2842:
2834:
2830:
2826:
2820:
2816:
2812:
2808:
2801:
2793:
2789:
2785:
2781:
2777:
2773:
2769:
2765:
2758:
2750:
2746:
2741:
2736:
2732:
2728:
2724:
2720:
2716:
2709:
2703:
2699:
2694:
2692:
2683:
2679:
2675:
2671:
2667:
2663:
2658:
2653:
2649:
2645:
2641:
2637:
2633:
2625:
2617:
2613:
2608:
2603:
2599:
2595:
2591:
2584:
2576:
2572:
2567:
2562:
2558:
2554:
2549:
2544:
2540:
2536:
2532:
2524:
2516:
2512:
2507:
2502:
2498:
2494:
2489:
2484:
2480:
2476:
2472:
2464:
2449:
2445:
2439:
2432:
2428:
2424:
2420:
2416:
2411:
2406:
2402:
2398:
2394:
2387:
2380:
2375:
2371:
2367:
2363:
2358:
2353:
2349:
2345:
2341:
2334:
2326:
2322:
2318:
2314:
2310:
2306:
2303:(6): 629–34.
2302:
2298:
2290:
2282:
2278:
2273:
2268:
2264:
2260:
2256:
2249:
2242:
2238:
2234:
2230:
2226:
2221:
2216:
2212:
2208:
2204:
2197:
2189:
2185:
2181:
2177:
2173:
2169:
2162:
2154:
2150:
2145:
2140:
2136:
2132:
2128:
2121:
2119:
2111:
2107:
2103:
2099:
2095:
2090:
2085:
2081:
2077:
2073:
2066:
2050:
2046:
2040:
2032:
2028:
2023:
2018:
2014:
2010:
2006:
1999:
1997:
1995:
1986:
1980:
1976:
1969:
1967:
1959:
1954:
1950:
1946:
1942:
1937:
1932:
1928:
1924:
1920:
1913:
1906:
1902:
1898:
1894:
1890:
1885:
1880:
1876:
1872:
1868:
1861:
1853:
1847:
1843:
1842:
1834:
1826:
1822:
1817:
1812:
1808:
1804:
1800:
1796:
1792:
1785:
1777:
1773:
1768:
1763:
1758:
1753:
1749:
1745:
1741:
1737:
1736:
1731:
1724:
1709:
1703:
1695:
1691:
1687:
1683:
1680:(2): 125–30.
1679:
1675:
1668:
1660:
1656:
1652:
1648:
1644:
1640:
1636:
1632:
1628:
1624:
1620:
1613:
1598:
1594:
1587:
1572:
1568:
1562:
1554:
1550:
1546:
1539:
1524:
1521:Services Do.
1517:
1509:
1505:
1501:
1497:
1492:
1487:
1483:
1479:
1475:
1468:
1453:
1449:
1443:
1428:
1421:
1406:
1402:
1396:
1381:
1377:
1371:
1356:
1352:
1346:
1338:
1334:
1330:
1326:
1322:
1318:
1314:
1310:
1302:
1300:
1285:
1281:
1277:
1273:
1266:
1250:
1246:
1240:
1232:
1228:
1223:
1218:
1213:
1208:
1204:
1200:
1196:
1189:
1187:
1178:
1174:
1170:
1166:
1162:
1158:
1154:
1150:
1146:
1142:
1138:
1131:
1129:
1120:
1116:
1112:
1105:
1103:
1101:
1099:
1097:
1095:
1093:
1084:
1080:
1076:
1072:
1068:
1064:
1060:
1056:
1049:
1047:
1045:
1043:
1026:
1022:
1016:
1014:
1012:
1010:
1008:
1006:
1004:
1002:
1000:
998:
996:
994:
992:
990:
988:
979:
978:
973:
967:
959:
955:
951:
949:
944:
938:
934:
924:
921:
920:
914:
911:
906:
904:
900:
894:
892:
888:
884:
880:
876:
867:
858:
856:
855:United States
850:
846:
842:
833:
831:
827:
826:osteopetrosis
823:
819:
815:
805:
802:
796:
793:
789:
787:
783:
778:
775:
765:
763:
758:
756:
752:
748:
744:
740:
736:
732:
728:
724:
720:
710:
707:
706:thoracolumbar
703:
699:
695:
692:
685:
681:
677:
676:
670:
661:
659:
655:
650:
648:
644:
640:
636:
631:
629:
625:
624:
616:
614:
610:
606:
602:
598:
594:
589:
587:
583:
574:
566:
557:
553:
551:
546:
538:
536:
535:shunt surgery
530:
525:
513:Complications
508:
507:hydrocephalus
504:
500:
496:
492:
488:
484:
481:
477:
474:
471:
467:
463:
460:
458:
454:
451:
448:
444:
441:
440:
434:
432:
428:
424:
420:
416:
412:
408:
404:
403:hydrocephalus
400:
396:
392:
387:
385:
381:
377:
373:
369:
365:
361:
357:
353:
349:
345:
341:
336:
334:
330:
327:or recurrent
326:
322:
318:
317:enlarged head
314:
310:
306:
302:
298:
289:
285:
281:
277:
274:
270:
267:
263:
259:
255:
252:
250:
246:
242:
238:
236:
232:
229:
226:
224:
220:
216:
215:
210:
206:
202:
199:
198:hydrocephalus
195:
191:
187:
186:hyperlordosis
183:
180:
178:
177:Complications
174:
170:
168:
164:
161:
158:
156:
152:
143:
54:
53:
51:
49:Pronunciation
47:
43:
39:
35:
30:
25:
19:
4578:
4566:
4554:
4541:
4540:
4487:
4465:
4453:
4441:
4414:
4402:
4390:
4378:
4366:
4354:
4347:TNF receptor
4317:
4305:
4272:
4209:
4180:
4168:
4151:
4133:
4127:
4099:
4083:
4071:
4026:
4003:
3980:
3957:
3945:
3925:
3913:
3897:
3877:
3865:
3838:deficiencies
3641:
3580:
3549:
3481:
3302:
3291:
3280:
3269:
3245:
3234:
3223:
3208:
3193:
3161:
3113:
3109:
3103:
3070:
3067:Mamm. Genome
3066:
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2049:the original
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1711:. Retrieved
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1602:26 September
1600:. Retrieved
1596:
1593:"FGFR3 gene"
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1287:, retrieved
1276:GeneReviews®
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1265:
1253:. Retrieved
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1147:(1): 42–51.
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958:the original
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879:basset hound
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808:Epidemiology
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764:in infancy.
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743:radiographic
723:spinal canal
716:
698:homozygosity
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478:(bowleg) or
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311:, while the
296:
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243:if uncertain
228:Paternal age
223:Risk factors
212:
18:
3848:(including
3573:enchondroma
3530:(including
3271:MedlinePlus
3162:GeneReviews
2055:28 November
1425:Kieffer S.
1355:Radiopaedia
1289:15 December
1255:12 December
1111:GeneReviews
1031:12 December
910:Ancon sheep
735:metacarpals
727:metaphyseal
702:stillbirths
675:Las Meninas
503:obstructive
449:shortening)
325:sleep apnea
4611:Categories
4051:(including
3392:Metaphysis
3293:Patient UK
3247:DiseasesDB
3172:. NBK1152.
2481:(1): 161.
2213:: 115579.
1623:The Lancet
1523:"Dwarfism"
1376:"Dwarfism"
1309:The Lancet
1055:The Lancet
1027:. May 2012
929:References
782:vosoritide
751:ultrasound
694:ultrasound
672:Detail of
447:rhizomelic
391:vosoritide
356:overactive
4404:TNFRSF13B
4392:TNFRSF13C
4368:TNFRSF13B
3569:Chondroma
3420:Epiphysis
3374:Diaphysis
3282:eMedicine
3130:1099-1212
2666:1552-4825
2557:1750-1172
2541:(1): 31.
2497:1750-1172
2453:2 January
2427:244638495
2374:244638495
2237:221133224
2106:244638495
2015:(2): 25.
1953:244638495
1901:244638495
1659:208788746
1643:0140-6736
1508:237198129
1337:221472752
1161:1552-4825
1083:208788746
875:dachshund
801:Resources
768:Treatment
739:phalanges
664:Diagnosis
643:urologist
628:dysplasia
623:dominance
485:Frequent
287:Frequency
272:Treatment
207:Genetic (
190:back pain
155:Specialty
4632:Dwarfism
4592:See also
4522:Integrin
4356:TNFRSF1A
4294:JAK-STAT
4228:Endoglin
3532:dwarfism
3304:Orphanet
3170:20301331
3087:11130976
3017:19608863
2872:25453127
2792:38614817
2784:12884421
2749:32803853
2700:(OMIM):
2682:22251966
2674:28763154
2616:30048634
2575:33446226
2515:32580780
2419:34837063
2366:34837063
2325:42226362
2317:17717461
2281:31269546
2229:32795681
2188:12816345
2153:10696568
2098:34837063
2031:79825711
1945:34837063
1893:34837063
1825:23912310
1776:16766665
1694:17950653
1651:17630040
1553:20301331
1500:34403286
1329:32891212
1284:20301331
1231:30606190
1205:(1): 1.
1177:22430204
1169:26394886
1119:20301331
1075:17630040
917:See also
691:prenatal
518:Children
489:(due to
470:lordosis
466:kyphosis
305:dwarfism
167:Symptoms
4515:AGM3, 6
4416:TNFRSF6
4380:TNFRSF5
4020:Class F
3997:Class C
3974:Class B
3859:Class A
3850:hormone
3717:type 1B
3701:SLC26A2
3241:D000130
3095:2786778
3052:1166121
3008:2748762
2987:Bibcode
2979:Science
2950:119–120
2898:"WebMD"
2833:3240281
2740:7540685
2566:7809733
2506:7313125
1816:3854059
1767:1480453
1744:Bibcode
1222:6318916
887:bulldog
861:Animals
820:tarda,
731:Fibular
621:double
505:), and
499:central
464:Spinal
399:obesity
364:de novo
352:protein
4568:BMPR1A
4319:CSF2RA
4274:GUCY2D
4250:TGFBR2
4246:TGFBR1
3959:PTGER2
3684:type 2
3668:COL2A1
3276:001577
3230:100800
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948:Lexico
828:, and
762:gibbus
560:Causes
541:Adults
480:valgus
354:being
204:Causes
146:
4580:IL2RG
4556:PTCH1
4409:CVID2
4397:CVID4
4236:SMAD4
4232:Alk-1
4211:AMHR2
4170:NTRK1
4129:FGFR3
4101:FGFR2
4085:FGFR1
3982:PTH1R
3947:AVPR2
3927:EDNRB
3915:GnRHR
3879:LHCGR
3633:FGFR3
3614:FGFR2
3219:756.4
3204:Q77.4
3091:S2CID
2788:S2CID
2678:S2CID
2423:S2CID
2370:S2CID
2321:S2CID
2233:S2CID
2102:S2CID
2027:S2CID
1949:S2CID
1897:S2CID
1655:S2CID
1504:S2CID
1333:S2CID
1173:S2CID
1079:S2CID
883:corgi
786:FGFR3
755:femur
605:FGFR3
593:FGFR3
586:FGFR3
495:apnea
476:Varus
344:FGFR3
319:with
313:torso
299:is a
217:gene)
214:FGFR3
4543:EDAR
4526:LAD1
4489:LDLR
4467:LRP5
4455:LRP4
4443:LRP2
4202:STPK
4153:INSR
4073:ROR2
4028:FZD4
4005:CASR
3899:FSHR
3867:TSHR
3483:FLNB
3236:MeSH
3225:OMIM
3214:9-CM
3166:PMID
3126:ISSN
3083:PMID
3048:PMID
3013:PMID
2954:ISBN
2917:ISBN
2868:PMID
2829:PMID
2819:ISBN
2780:PMID
2768:120A
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2670:PMID
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2225:PMID
2207:Bone
2184:PMID
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2094:PMID
2057:2007
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1941:PMID
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1821:PMID
1772:PMID
1715:2018
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1578:2018
1549:PMID
1530:2018
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1291:2023
1280:PMID
1257:2017
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1165:PMID
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1811:PMC
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