H00850 | |
H number | H00850 |
Name | Frontorhiny; Median facial cleft syndrome; Frontonasal dysplasia 1 |
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 |
Network | - |
Gene | ALX3 [HSA:257] [KO:K09323] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD25.3 ICD-10: Q75.8 MeSH: C538065 OMIM: 136760 |
Reference | PMID:19409524 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 PMID:22106187 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 |