Conditions / Syndrome
ectodermal dysplasia 10B
info · Syndrome
A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13.
Signs and symptoms
- Heat intolerance
- Microdontia
- Depressed nasal bridge
- Sparse eyebrow
- Sparse hair
- Periorbital wrinkles
- Hypohidrosis
- Sparse eyelashes
- Periorbital hyperpigmentation
- Oligodontia
Also known as: ECTD10B; ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive