Don’t fight Bent bone dysplasia syndrome alone.Find your community on the free RareGuru App.
Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with mutations in the FGFR2 gene.
Source: GARD Last updated on 05-01-20
Merrill, A. et.al, Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling, Am J Hum Genet. 2012 March 9; 90(3); 550-557.
Last updated on 04-27-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!