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GTR Home > Conditions/Phenotypes > Frontorhiny

Frontorhiny

Synonyms
FRONTONASAL MALFORMATION; Frontonasal dysplasia 1
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A distinct syndromic type of frontonasal malformation with characteristics of 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. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. [from SNOMEDCT_US]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FND, FND1, ALX3
    Summary: ALX homeobox 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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