Conditions / Syndrome
frontonasal dysplasia 1
info · Syndrome
A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline
A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.
Signs and symptoms
- Wide nasal bridge
- Epicanthus
- Preauricular skin tag
- Cranium bifidum occultum
- Pectoral muscle hypoplasia/aplasia
- Brachydactyly
- Median cleft upper lip
- Short columella
- Agenesis of corpus callosum
- Cataract
Also known as: Frontorhiny