ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE

General Information (adopted from Orphanet):

Synonyms, Signs: EEC SYNDROME WITHOUT CLEFT LIP/PALATE
Number of Symptoms 8
OrphanetNr:
OMIM Id: 129810
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000164) Abnormality of the teeth 291 / 7739
2
(HPO:0001171) Split hand 72 / 7739
3
(HPO:0001839) Split foot 28 / 7739
4
(HPO:0000968) Ectodermal dysplasia 46 / 7739
5
(HPO:0001006) Hypotrichosis 219 / 7739
6
(OMIM) Variably mild split-hand/split-foot to severe tetramelia 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) No cleft lip/palate 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 4 generations of a Mauritian family, Wallis (1988) described ectrodactyly (split-hand/split-foot) and ectodermal dysplasia without clefting of the lip or palate as is seen in the classic EEC syndrome (see 129900). The ectrodactyly ranged from virtual normality ...