Multiple epiphyseal dysplasia, Al-Gazali type

General Information (adopted from Orphanet):

Synonyms, Signs: MMEDF
Multiple epiphyseal dysplasia - macrocephaly - distinctive facies
Number of Symptoms 24
OrphanetNr: 166024
OMIM Id: 607131
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple epiphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0001999) Abnormal facial shape 169 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
5
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
8
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
9
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
10
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
11
 (HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
12
 (HPO:0000768) Pectus carinatum 136 / 7739
13
 (HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
14
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
15
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
16
 (HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
17
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
18
 (HPO:0000023) Inguinal hernia 181 / 7739
19
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
20
 (HPO:0001004) Lymphedema 62 / 7739
21
 (HPO:0030084) Clinodactyly 90 / 7739
22
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
23
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
24
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bayoumi et al. (2001) described linkage analysis in an Omani family previously described by Al-Gazali and Bakalinova (1998). The pedigree consisted of 13 children in 2 sibships of a multiply consanguineous family. Four of the children were affected. ...