KEGG   DISEASE: Acrofacial dysostosis
Entry
H01376                      Disease                                

Name
Acrofacial dysostosis
  Subgroup
Nager syndrome
Miller (Genee-Wiedemann) syndrome
Weyers acrofacial dysostosis [DS:H02158]
Acrofacial dysostosis, Cincinnati type
Description
Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01376  Acrofacial dysostosis
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
    H01376  Acrofacial dysostosis
Pathway
hsa00240  Pyrimidine metabolism
hsa03040  Spliceosome
Gene
DHODH [HSA:1723] [KO:K00254]
SF3B4 [HSA:10262] [KO:K12831]
EVC2 [HSA:132884] [KO:K19608]
POLR1A [HSA:25885] [KO:K02999]
Other DBs
ICD-11: LD25.2
ICD-10: Q75.4
MeSH: C537680 C538182 C538183 C538184 C538185
OMIM: 154400 263750 193530 616462
Reference
PMID:8266994
  Authors
Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
  Title
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
  Journal
Am J Med Genet 47:660-78 (1993)
DOI:10.1002/ajmg.1320470517
Reference
  Authors
Trainor PA, Andrews BT
  Title
Facial dysostoses: Etiology, pathogenesis and management.
  Journal
Am J Med Genet C Semin Med Genet 163:283-94 (2013)
DOI:10.1002/ajmg.c.31375
Reference
  Authors
Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D
  Title
Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.
  Journal
J Matern Fetal Neonatal Med 20:487-90 (2007)
DOI:10.1080/14767050701398447
Reference
  Authors
Wieczorek D
  Title
Human facial dysostoses.
  Journal
Clin Genet 83:499-510 (2013)
DOI:10.1111/cge.12123
Reference
  Authors
Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z
  Title
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
  Journal
Hum Genet 119:199-205 (2006)
DOI:10.1007/s00439-005-0129-2
Reference
  Authors
Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Konig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM
  Title
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
  Journal
Am J Hum Genet 96:765-74 (2015)
DOI:10.1016/j.ajhg.2015.03.011
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