FGFR2-related bent bone dysplasia

Orpha code: 313855OMIM code: 614592

Definition

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.

Disease data
Classification

Disease

Synonyms
Perinatal lethal bent bone dysplasia
Prenatalna śmiertelna dysplazja wygiętych kości
ORPHA code
313855
OMIM code
614592
ICD10 code
-
ICD11 code
-

No additional description.

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