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People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. This type of dwarfism is characterized by a normal spinal column length relative to the
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Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
309:
gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.
251:). Decreased joint mobility and arthritis often develop early in life. Medical texts often state a mild and variable change to facial features, including
320:
There is no treatment for the underlying condition. Supportive/symptomatic treatment is based on the traits present in each person with the condition.
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close to the nose appearing flattened, although this appears to be unfounded. Some infants are born with a cleft palate. Severe nearsightedness (high
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bone. Adult height ranges from 0.9 meters (35 inches) to just over 1.4 meters (55 inches). Curvature of the spine (such as
190:). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders
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430:"Spondyloepiphyseal dysplasia congenita | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the
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223:) progresses during childhood and can cause problems with breathing. Changes in the spinal bones (
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259:) is sometimes present, as are other eye problems that can affect vision such as
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301:). Type II collagen is essential for the normal development of bones and other
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403:, Dutch Jewish accountant, teacher, and translator who was murdered by the
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263:. About one-quarter of people with this condition have mild to moderate
170:, characteristic skeletal abnormalities, and occasionally problems with
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178:. The name of the condition indicates that it affects the bones of the
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if you can. Unsourced or poorly sourced material may be challenged and
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X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia
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This article incorporates text from this source, which is in the
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joint deformity in which the upper leg bones turn inward (
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damage. Other skeletal signs include flattened vertebrae (
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198:. Spondyloepiphyseal dysplasia congenita is a subtype of
544:
576:
247:), and an inward- and downward-turning foot (called
289:gene. The protein made by this gene forms type II
1091:Autosomal recessive multiple epiphyseal dysplasia
297:and in the clear gel that fills the eyeball (the
1710:
526:NORD (National Organization for Rare Disorders)
46:Please review the contents of the article and
1187:
703:
375:film series. His two children also have SED.
1465:Transient bullous dermolysis of the newborn
162:more often than SDC) is a rare disorder of
1455:Recessive dystrophic epidermolysis bullosa
1194:
1180:
717:
710:
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522:"Spondyloepiphyseal Dysplasia, Congenital"
144:
392:, Ukrainian-born American with dwarfism,
497:"Spondyloepiphyseal dysplasia congenita"
461:"Spondyloepiphyseal dysplasia congenita"
274:
62:"Spondyloepiphyseal dysplasia congenita"
1711:
1300:Spondyloepiphyseal dysplasia congenita
795:Spondyloepiphyseal dysplasia congenita
186:), and that it is present from birth (
156:Spondyloepiphyseal dysplasia congenita
129:Spondyloepiphyseal dysplasia congenita
1581:Ullrich congenital muscular dystrophy
1425:Ullrich congenital muscular dystrophy
1175:
772:Jansen's metaphyseal chondrodysplasia
691:
494:
458:
1662:Congenital stromal corneal dystrophy
1119:Rhizomelic chondrodysplasia punctata
15:
1546:Otospondylomegaepiphyseal dysplasia
1525:Schmid metaphyseal chondrodysplasia
805:Otospondylomegaepiphyseal dysplasia
777:Schmid metaphyseal chondrodysplasia
182:(spondylo-) and the ends of bones (
13:
555:
357:, English actor and TV presenter,
14:
1740:
1541:Weissenbacher–Zweymüller syndrome
1450:Epidermolysis bullosa dystrophica
1305:Spondyloepimetaphyseal dysplasia,
572:
395:The Curious Case of Natalia Grace
323:
1641:Junctional epidermolysis bullosa
1145:Short rib – polydactyly syndrome
476:
112:
20:
1646:Laryngoonychocutaneous syndrome
1150:Majewski's polydactyly syndrome
205:
200:collagenopathy, types II and XI
514:
488:
452:
422:
231:may also increase the risk of
48:add the appropriate references
1:
1503:Multiple epiphyseal dysplasia
924:Hereditary multiple exostoses
868:Polyostotic fibrous dysplasia
800:Multiple epiphyseal dysplasia
415:
315:
293:, a molecule found mostly in
1719:Autosomal dominant disorders
1157:Léri–Weill dyschondrosteosis
7:
340:-nominated American actor,
33:reliable medical references
10:
1745:
1124:Conradi–Hünermann syndrome
749:Camurati–Engelmann disease
495:Reference, Genetics Home.
459:Reference, Genetics Home.
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1111:Chondrodysplasia punctata
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1096:Atelosteogenesis, type II
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434:rarediseases.info.nih.gov
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133:
128:
39:or relies too heavily on
873:McCune–Albright syndrome
384:Am I Being Unreasonable?
1238:Osteogenesis imperfecta
1021:Thanatophoric dysplasia
501:Genetics Home Reference
465:Genetics Home Reference
166:growth that results in
1553:Type XI collagenopathy
1389:Ehlers–Danlos syndrome
1340:Ehlers–Danlos syndrome
1320:Type II collagenopathy
1249:Ehlers–Danlos syndrome
990:Antley–Bixler syndrome
972:Growth factor receptor
719:Osteochondrodysplasias
280:
192:achondrogenesis type 2
1672:Urbach–Wiethe disease
1509:(types 2, 3, & 6)
1351:Sack–Barabas syndrome
1255:(types 1, 2, & 7)
1101:Diastrophic dysplasia
767:Metaphyseal dysplasia
278:
1140:Fibrochondrogenesis
918:osteochondromatosis
856:Boomerang dysplasia
305:. Mutations in the
1603:Bullous pemphigoid
1274:Hypochondrogenesis
1058:Hypochondrogenesis
662:External resources
366:Return of the Jedi
343:The Wild Wild West
303:connective tissues
281:
196:hypochondrogenesis
1706:
1705:
1627:
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1619:Knobloch syndrome
1395:(types 1 & 2)
1346:(types 3 & 4)
1295:Marshall syndrome
1290:Stickler syndrome
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1014:Hypochondroplasia
960:Maffucci syndrome
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381:, English actor,
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123:Medical condition
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1724:Collagen disease
1699:fibrous proteins
1684:DFNA8/12, DFNB21
1588:
1585:
1577:
1574:
1570:Bethlem myopathy
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1510:
1507:
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1481:Fuchs' dystrophy
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1414:Bethlem myopathy
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1316:Kniest dysplasia
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1310:(Strudwick type)
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1220:Collagen disease
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1071:sulfation defect
1038:collagen disease
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949:enchondromatosis
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894:chondrodystrophy
889:Chondrodysplasia
863:Opsismodysplasia
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436:. Archived from
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261:detached retinas
158:(abbreviated to
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140:Medical genetics
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1370:Alport syndrome
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1279:Achondrogenesis
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1079:Achondrogenesis
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1046:Achondrogenesis
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842:Other/ungrouped
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828:Osteopoikilosis
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556:Further reading
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1667:Raine syndrome
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1212:scleroproteins
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1133:Other dwarfism
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1016:
1009:Achondroplasia
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993:
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984:
974:
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967:
965:
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955:Ollier disease
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942:
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909:Osteochondroma
902:
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858:
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823:Raine syndrome
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817:
815:Osteosclerosis
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732:osteodystrophy
727:Osteodysplasia
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581:Classification
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573:External links
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440:on 2 June 2019
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324:Notable people
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1729:Rare diseases
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1460:Bart syndrome
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407:during the
233:spinal cord
31:needs more
1713:Categories
1210:and other
759:Metaphysis
647:DiseasesDB
416:References
379:Lenny Rush
372:Leprechaun
316:Management
253:cheekbones
188:congenital
73:newspapers
1697:see also
936:Chondroma
787:Epiphysis
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671:eMedicine
409:Holocaust
349:Star Trek
295:cartilage
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227:) in the
225:vertebrae
184:epiphyses
135:Specialty
103:June 2019
1587:(type 2)
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1204:collagen
899:dwarfism
531:20 March
470:20 March
299:vitreous
291:collagen
249:clubfoot
221:lordosis
168:dwarfism
1633:Laminin
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1084:type 1B
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176:hearing
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271:Causes
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405:Nazis
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180:spine
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80:books
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850:FLNB
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546:ISBN
533:2020
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338:Tony
229:neck
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