KEGG   DISEASE: Osteoglophonic dysplasiaHelp
Entry
H00443                      Disease                                

Name
Osteoglophonic dysplasia;
Osteoglophonic dwarfism
Description
Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00443  Osteoglophonic dysplasia
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
    H00443  Osteoglophonic dysplasia
BRITE hierarchy
Gene
FGFR1 [HSA:2260] [KO:K04362]
Other DBs
ICD-11: LD24.2Y
ICD-10: Q87.1
MeSH: C536050
OMIM: 166250
Reference
  Authors
Shankar VN, Ajila V, Kumar G
  Title
Osteoglophonic dysplasia: a case report.
  Journal
J Oral Sci 52:167-71 (2010)
DOI:10.2334/josnusd.52.167
Reference
  Authors
Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ
  Title
Osteoglophonic dysplasia: A 'common' mutation in a rare disease.
  Journal
Clin Genet 78:197-8 (2010)
DOI:10.1111/j.1399-0004.2010.01382.x
Reference
  Authors
White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ
  Title
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
  Journal
Am J Hum Genet 76:361-7 (2005)
DOI:10.1086/427956

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