Multiple epiphyseal dysplasia, Beighton type

General Information (adopted from Orphanet):

Synonyms, Signs: EDMMD
Multiple epiphyseal dysplasia - myopia - deafness
Number of Symptoms 27
OrphanetNr: 166011
OMIM Id: 132450
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple epiphyseal 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:0000311) Round face Very frequent [Orphanet] 104 / 7739
2
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
3
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
4
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
5
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
6
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
7
 (HPO:0008591) Congenital conductive hearing impairment 8 / 7739
8
 (HPO:0008513) Bilateral conductive hearing impairment 11 / 7739
9
 (HPO:0002673) Coxa valga 57 / 7739
10
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
11
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
12
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
13
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
14
 (HPO:0002857) Genu valgum 144 / 7739
15
 (HPO:0009803) Short phalanx of finger 79 / 7739
16
 (HPO:0004322) Short stature 1232 / 7739
17
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
18
 (OMIM) Retinal thinning 1 / 7739
19
 (HPO:0030329) Retinal thinning 3 / 7739
20
 (OMIM) Snub nose 4 / 7739
21
 (MedDRA:10072883) Brachydactyly 153 / 7739
22
 (OMIM) Shortened vertebral bodies, mild 1 / 7739
23
 (OMIM) Flattened epiphyses around knee joint 1 / 7739
24
 (OMIM) Myopia, progressive, early onset 1 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (MedDRA:10020478) Hyalosis asteroid 1 / 7739
27
 (OMIM) Cataracts, crenated 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Beighton et al. (1978) described an Afrikaner kindred in South Africa in which the mother, her 2 sons, and her daughter had a syndrome of multiple epiphyseal dysplasia, myopia, and conductive deafness. The patients had short stature, brachydactyly, ...
Molecular genetics OMIM Ballo et al. (1998) performed molecular genetic analysis on the family described by Beighton et al. (1978) and discovered a heterozygous arg-to-cys substitution at residue 704 of the COL2A1 gene, occurring at the X position of the Gly-X-Y ...