KEGG   DISEASE: Pfeiffer syndromeHelp
Entry
H01756                      Disease                                

Name
Pfeiffer syndrome
  Supergrp
Syndromic craniosynostoses [DS:H00458]
Description
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01756  Pfeiffer syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01756  Pfeiffer syndrome
BRITE hierarchy
Gene
FGFR1 [HSA:2260] [KO:K04362]
FGFR2 [HSA:2263] [KO:K05093]
Comment
See also H00458 Craniosynostosis.
Other DBs
ICD-11: LD24.G0
ICD-10: Q87.0
MeSH: D000168
OMIM: 101600
Reference
  Authors
Johnson D, Wilkie AO
  Title
Craniosynostosis.
  Journal
Eur J Hum Genet 19:369-76 (2011)
DOI:10.1038/ejhg.2010.235
Reference
  Authors
Vogels A, Fryns JP
  Title
Pfeiffer syndrome.
  Journal
Orphanet J Rare Dis 1:19 (2006)
DOI:10.1186/1750-1172-1-19
Reference
  Authors
Lee MY, Jeon GW, Jung JM, Sin JB
  Title
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.
  Journal
Korean J Pediatr 53:774-7 (2010)
DOI:10.3345/kjp.2010.53.7.774

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