Conditions / Genetic
acromelic frontonasal dysostosis
info · Genetic
A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations and that has_material_basis_in hete
A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations and that has_material_basis_in heterozygous mutation in the ZSWIM6 gene on chromosome 5q12.
Signs and symptoms
- Midline defect of the nose
- Hypertelorism
- Vertical clivus
- Midline facial cleft
- Wide nasal bridge
- Patellar hypoplasia
- Aplasia of the olfactory bulb
- Telecanthus
- Tubulonodular pericallosal lipoma
- Absent fetal nasal bone