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 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