Ectodermal dysplasia - sensorineural deafness

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 1883
OMIM Id: 224800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
2
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
 (HPO:0009473) Joint contracture of the hand 84 / 7739
6
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
7
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
8
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
9
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
10
 (HPO:0002943) Thoracic scoliosis 12 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
13
 (HPO:0007529) Hidrotic ectodermal dysplasia 3 / 7739
14
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
15
 (HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
 (OMIM) Fifth finger contractures 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: