KEGG DISEASE: Frontorhiny

KEGG

DISEASE: Frontorhiny

Entry

H00850                      Disease

Name

Frontorhiny;
Median facial cleft syndrome;
Frontonasal dysplasia 1

Supergrp

Frontonasal dysplasia [DS:H00528]

Description

Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism, abnormal nasal configuration, and cleft lip. This disorder is caused by disturbed developmental sequence between 4 and 8 weeks in which formation of the face takes place.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H00850  Frontorhiny

Gene

ALX3 [HSA:257] [KO:K09323]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO

Title

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

Journal

Am J Hum Genet 84:698-705 (2009)
DOI:10.1016/j.ajhg.2009.04.009

Reference

Authors

Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT

Title

Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management.

Journal

Arch Facial Plast Surg 13:415-20 (2011)
DOI:10.1001/archfacial.2011.684

LinkDB

» Japanese version

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