frontonasal dysplasia 1

Term ID

DOID:0081045

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. https://pubmed.ncbi.nlm.nih.gov/19409524/

References

• OMIM:136760

Ontology

Human Disease   ( DOID:0081045 )