Conditions / Syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
info · Syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
Signs and symptoms
- Sparse hair
- Hypogonadotropic hypogonadism
- Toe syndactyly
- Anal atresia
- Split hand
- Duplicated collecting system
- Sparse eyebrow
- Hypertelorism
- Depressed nasal tip
- Blue irides
Also known as: EEC syndrome 1; EEC1