Conditions / Syndrome
ectodermal dysplasia 13
info · Syndrome
An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.
Signs and symptoms
- Brittle hair
- Oligodontia
- Downslanted palpebral fissures
- Low anterior hairline
- Sparse eyelashes
- Thin eyebrow
- Ectodermal dysplasia
- Wide nasal bridge
- Thick vermilion border
- Hypertelorism
Also known as: ECTD13; ectodermal dysplasia 13, hair/tooth type