Term Name: frontonasal dysplasia 1
Synonyms: Frontorhiny
Definition: 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.
Ontology: Human Disease [DOID:0081045]   ( DOID:0081045 )

Relationships
is a type of: autosomal recessive disease frontonasal dysplasia