Conditions / Syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
info · Syndrome
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 hetero
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.
Signs and symptoms
- Lacrimal duct stenosis
- Hypoplastic nipples
- Hypogonadotropic hypogonadism
- Toe syndactyly
- Hearing impairment
- Duplicated collecting system
- Blue irides
- Depressed nasal tip
- Nail pits
- Sparse axillary hair
Also known as: EEC syndrome 3; EEC3