Epimetaphyseal skeletal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 1819
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
2
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
3
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
4
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
5
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
6
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
7
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
8
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
9
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
10
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
11
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
12
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
13
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
14
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
15
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
16
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
17
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
18
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
19
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: