bent bone dysplasia syndrome 1

Term ID

DOID:0060992

Synonyms

Definition

A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/22387015/

References

• MIM:614592

Ontology

Human Disease   ( DOID:0060992 )