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GENATLAS PHENOTYPE

last update : 30-01-2013

Symbol	BBDS
Location	10q26.3
Name	Bent bone dysplasia
Corresponding gene	FGFR2
Other symbol(s)	BBDYS
Main clinical features	perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum
Genetic determination	not applicable
Function/system disorder	osteo-articular
Type	disease

Remark(s)

affected patients were found to be heterozygous for missense mutations that introduce a polar amino acid into the hydrophobic transmembrane domain of FGFR2 (PMID: 22387015))