Otospondylomegaepiphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: NANCE-SWEENEY CHONDRODYSPLASIA
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
NANCE-INSLEY SYNDROME
OSMED
Number of Symptoms 54
OrphanetNr: 1427
OMIM Id: 215150
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed: 254060000

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 11 collagen-related bone disorder
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
2
 (HPO:0011800) Midface retrusion 221 / 7739
3
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
4
 (HPO:0000414) Bulbous nose 63 / 7739
5
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
6
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
10
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
11
 (HPO:0000478) Abnormality of the eye 126 / 7739
12
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
13
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
14
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
 (HPO:0000410) Mixed hearing impairment 22 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
17
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
18
 (HPO:0003015) Flared metaphysis 44 / 7739
19
 (HPO:0010049) Short metacarpal 99 / 7739
20
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
21
 (HPO:0003037) Enlarged joints 4 / 7739
22
 (HPO:0009803) Short phalanx of finger 79 / 7739
23
 (HPO:0001371) Flexion contracture 220 / 7739
24
 (HPO:0004679) Large tarsal bones 1 / 7739
25
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
26
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
27
 (HPO:0003088) Premature osteoarthritis 10 / 7739
28
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
29
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
30
 (HPO:0003026) Short long bone 51 / 7739
31
 (HPO:0006375) Dumbbell-shaped femur 2 / 7739
32
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
33
 (HPO:0005003) Aplasia/Hypoplasia of the capital femoral epiphysis 1 / 7739
34
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
35
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
36
 (HPO:0004279) Short palm 323 / 7739
37
 (HPO:0006237) Prominent interphalangeal joints 2 / 7739
38
 (HPO:0000926) Platyspondyly 150 / 7739
39
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
40
 (HPO:0005059) Arthralgia/arthritis 141 / 7739
41
 (HPO:0002829) Arthralgia 79 / 7739
42
 (HPO:0004322) Short stature 1232 / 7739
43
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
44
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
45
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
46
 (HPO:0006532) Recurrent pneumonia 48 / 7739
47
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
48
 (OMIM) Wide flat epiphyses 1 / 7739
49
 (OMIM) Square iliac wings 2 / 7739
50
 (OMIM) Absent-small capital femoral epiphyses (infancy-early childhood) 1 / 7739
51
 (OMIM) No ocular symptoms 2 / 7739
52
 (OMIM) Anterior vertebral wedging (childhood) 1 / 7739
53
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
54
 (OMIM) Enlarged odontoid (childhood) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Affected kindreds were reported by Nance and Sweeney (1970) and by Insley and Astley (1974). The adult height of Nance and Sweeney's patient was 51 inches. The nasal bridge was markedly sunken. Superficially the appearance suggested achondroplasia, but ...
Molecular genetics OMIM In a Dutch family with OSMED, Vikkula et al. (1995) demonstrated homozygosity for a missense mutation in the COL11A2 gene (120290.0002) as the cause of the disorder.

Miyamoto et al. (2005) presented evidence of genetic heterogeneity ...