KEGG   DISEASE: Fuhrmann syndromeHelp
Entry
H00846                      Disease                                

Name
Fuhrmann syndrome;
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
Description
Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00846  Fuhrmann syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00846  Fuhrmann syndrome
BRITE hierarchy
Gene
WNT7A [HSA:7476] [KO:K00572]
Other DBs
ICD-11: LD26.Y
ICD-10: Q74.8
MeSH: C538189
OMIM: 228930
Reference
PMID:1785629
  Authors
Lipson AH, Kozlowski K, Barylak A, Marsden W
  Title
Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.
  Journal
Am J Med Genet 41:176-9 (1991)
DOI:10.1002/ajmg.1320410208
Reference
PMID:7363910
  Authors
Fuhrmann W, Fuhrmann-Rieger A, de Sousa F
  Title
Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.
  Journal
Eur J Pediatr 133:123-9 (1980)
DOI:10.1007/BF00441580
Reference
  Authors
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
  Title
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
  Journal
Am J Hum Genet 79:402-8 (2006)
DOI:10.1086/506332

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