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Ectrodactyly - ectodermal dysplasia without clefting

Orpha number ORPHA1888
Synonym(s) EEC syndrome without cleft lip/palate
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

The association of ectrodactyly (split hands and feet) and ectodermal dysplasia (mainly hypotrichosis and dentition anomalies) has been reported in five members of a family in which transmission was autosomal dominant. Lack of lip/palate clefting makes it different from EEC syndrome (see this term). Nevertheless, some authors consider this association as a variant of EEC syndrome.


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