Spondyloepiphyseal dysplasia congenita

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
SED CONGENITA
SEDC
Spranger-Wiedemann disease
Congenital spondyloepiphyseal dysplasia
Number of Symptoms 58
OrphanetNr: 94068
OMIM Id: 183900
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0000272) Malar flattening 277 / 7739
4
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
5
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
8
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
9
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
10
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
11
 (HPO:0000655) Vitreoretinal degeneration 8 / 7739
12
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
13
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
14
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
15
 (HPO:0002515) Waddling gait 56 / 7739
16
 (HPO:0000926) Platyspondyly 150 / 7739
17
 (HPO:0008142) Delayed calcaneal ossification 1 / 7739
18
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
20
 (HPO:0002827) Hip dislocation 94 / 7739
21
 (HPO:0002812) Coxa vara 58 / 7739
22
 (HPO:0000768) Pectus carinatum 136 / 7739
23
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
24
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
25
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
26
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
27
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
28
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
29
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
30
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
31
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
32
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
33
 (HPO:0001552) Barrel-shaped chest 31 / 7739
34
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
35
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
36
 (HPO:0008788) Delayed pubic bone ossification 5 / 7739
37
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
38
 (HPO:0002996) Limited elbow movement 16 / 7739
39
 (HPO:0003071) Flattened epiphysis 14 / 7739
40
 (HPO:0008857) Neonatal short-trunk short stature 1 / 7739
41
 (HPO:0008800) Limited hip movement 3 / 7739
42
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
43
 (HPO:0010501) Limitation of knee mobility 2 / 7739
44
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
45
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
46
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
47
 (HPO:0002098) Respiratory distress 75 / 7739
48
 (HPO:0001252) Muscular hypotonia 990 / 7739
49
 (HPO:0010547) Muscle flaccidity 466 / 7739
50
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
51
 (HPO:0001324) Muscle weakness 859 / 7739
52
 (HPO:0002318) Cervical myelopathy 10 / 7739
53
 (OMIM) Absent talus and calcaneal ossification in infancy 1 / 7739
54
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
55
 (OMIM) Diminished joint mobility at elbows, knees, and hips 1 / 7739
56
 (OMIM) Final adult height, 84-128cm 1 / 7739
57
 (OMIM) Specific growth curves are available 5 / 7739
58
 (OMIM) Dwarfism, short-trunk, identifiable at birth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration ...
Clinical Description OMIM Spranger and Wiedemann (1966, 1966) suggested the designation spondyloepiphyseal dysplasia congenita for a disorder affecting particularly the vertebrae and juxtatruncal epiphyses. Four of 6 patients had progressive myopia. Three persons (mother and 2 sons) were affected in 1 ...
Genotype-Phenotype Correlations OMIM Murray et al. (1989) found that almost all the patients they studied with spondyloepiphyseal dysplasias or spondyloepimetaphyseal dysplasias showed abnormally slow electrophoretic mobility of type II collagen. Peptides near the amino terminus were almost always altered, while the ...
Molecular genetics OMIM In a sporadic case of SED congenita, Lumadue et al. (1988) found changes in the COL2A1 gene consistent with deletion or insertion 5-prime to exon 39.

Lee et al. (1989) identified an abnormal restriction pattern in ...