FGFR2-related bent bone dysplasia

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Synonyms: Perinatal lethal bent bone dysplasia

FGFR2-related bent bone dysplasia is a rare genetic lethal primary bone dysplasia characterized by dysmorphic craniofacial features (low-set posteriorly rotated ears hypertelorism megalophtalmos flattened and hypoplastic midface micrognathia) hypomineralization of the calvarium craniosynostosis hypoplastic clavicles and pubis and bent long bones (particularly involving the femora) caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth osteopenia hirsutism clitoromegaly gingival hyperplasia and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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