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Article

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

American journal of human genetics - 1 May 2009

Twigg Stephen R F, Versnel Sarah L, Nürnberg Gudrun, Lees Melissa M, Bhat Meenakshi, Hammond Peter, Hennekam Raoul C M, Hoogeboom A Jeannette M, Hurst Jane A, Johnson David, Robinson Alexis A, Scambler Peter J, Gerrelli Dianne, Nürnberg Peter, Mathijssen Irene M J, Wilkie Andrew O M

Abstract excerpt

We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, broad columella, widely separated slit-like nares, long philtrum with prominent bilateral swellings, and midline notch in the upper lip and alveolus. Additional recurrent features present in a minority of individuals have been...

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Identifiers

PMID: 19409524
DOI: 10.1016/j.ajhg.2009.04.009
PMCID: PMC2681074

Genes

ALX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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