Conditions / Syndrome
frontonasal dysplasia 2
info · Syndrome
A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11.
Signs and symptoms
- Strabismus
- Sparse eyebrow
- Hypertelorism
- Anterior plagiocephaly
- Broad philtrum
- Bilateral cryptorchidism
- Brachycephaly
- Alopecia totalis
- Anteverted nares
- Blepharophimosis