| H00528 | |
| H number | H00528 |
| Name | Frontonasal dysplasia |
| Description | Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose. |
| Category | Congenital malformation |
| Network | - |
| Gene | (FND1) ALX3 [HSA:257] [KO:K09323] (FND2) ALX4 [HSA:60529] [KO:K09451] (FND3) ALX1 [HSA:8092] [KO:K09334] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD25.3 ICD-10: Q75.8 MeSH: C538065 OMIM: 136760 613451 613456 |
| Reference | PMID:21108387 AUTHORS Brugmann SA, Cordero DR, Helms JA TITLE Craniofacial ciliopathies: A new classification for craniofacial disorders. JOURNAL Am J Med Genet A 152A:2995-3006 (2010) DOI:10.1002/ajmg.a.33727 PMID:21285785 AUTHORS Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S TITLE The spectrum of median craniofacial dysplasia. JOURNAL Plast Reconstr Surg 127:812-21 (2011) DOI:10.1097/PRS.0b013e318200aa08 PMID:20451171 AUTHORS Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA TITLE Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. JOURNAL Am J Hum Genet 86:789-96 (2010) DOI:10.1016/j.ajhg.2010.04.002 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:19692347 AUTHORS Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA TITLE ALX4 dysfunction disrupts craniofacial and epidermal development. JOURNAL Hum Mol Genet 18:4357-66 (2009) DOI:10.1093/hmg/ddp391 |