ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Term ID

DOID:0060783

Synonyms

• EEC syndrome 3
• EEC3

Definition

An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (2)

References

• MESH:C536189
• NCI:C148261
• OMIM:604292
• ORDO:1896
• SNOMEDCT_US_2023_03_01:39788007
• UMLS_CUI:C0406704

Ontology

Human Disease   ( DOID:0060783 )