ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3)

Genetics

• autosomal dominant
• associated with p63 mutations at chromosome 3q27

Clinical manifestations

• ectrodactyly of hands & feet, ectodermal dysplasia & facial clefting

More general terms

• ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome

Additional terms

• p63 protein; p53 homolog p63; tumor protein p73-like; p73L; TP63; p51; p40; keratinocyte transcription factor KET; chronic ulcerative stomatitis protein (CUSP, TP73L, KET, p63, P73H)

Database

• OMIM: https://mirror.omim.org/entry/604292