Conditions / Syndrome
frontonasal dysplasia 3
info · Syndrome
A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.
Signs and symptoms
- Absent eyebrow
- Wide nasal bridge
- Prominent glabella
- Hypertelorism
- Microphthalmia
- Upper eyelid coloboma
- Sparse eyelashes
- Brachycephaly
- Intellectual disability
- Low-set ears