KEGG   DISEASE: Frontonasal dysplasia
Entry
H00528                      Disease                                

Name
Frontonasal dysplasia
  Subgroup
Frontorhiny [DS:H00850]
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00528  Frontonasal dysplasia
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
    H00528  Frontonasal dysplasia
Gene
(FND1) ALX3 [HSA:257] [KO:K09323]
(FND2) ALX4 [HSA:60529] [KO:K09451]
(FND3) ALX1 [HSA:8092] [KO:K09334]
Other DBs
ICD-11: LD25.3
ICD-10: Q75.8
MeSH: C538065
OMIM: 136760 613451 613456
Reference
  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
Reference
  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
Reference
  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
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
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
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