ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 129540
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000319) Smooth philtrum 72 / 7739
2
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
 (HPO:0000653) Sparse eyelashes 58 / 7739
4
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
5
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
 (HPO:0000670) Carious teeth 145 / 7739
7
 (HPO:0009084) Midline notch of upper alveolar ridge 1 / 7739
8
 (HPO:0000506) Telecanthus 156 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0000272) Malar flattening 277 / 7739
11
 (HPO:0005280) Depressed nasal bridge 381 / 7739
12
 (HPO:0000750) Delayed speech and language development 197 / 7739
13
 (HPO:0010098) Complete duplication of the 1st metatarsal 1 / 7739
14
 (HPO:0010075) Duplication of the 1st metatarsal 1 / 7739
15
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
16
 (HPO:0100258) Preaxial polydactyly 39 / 7739
17
 (HPO:0001597) Abnormality of the nail 115 / 7739
18
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
19
 (HPO:0001596) Alopecia 162 / 7739
20
 (OMIM) Duplicated halluces 2 / 7739
21
 (OMIM) Rounded nails 1 / 7739
22
 (OMIM) Thickened frenulum 1 / 7739
23
 (HPO:0003745) Sporadic 131 / 7739
24
 (OMIM) Scalp alopecia 1 / 7739
25
 (OMIM) Body alopecia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: