Term Name: bent bone dysplasia syndrome 1
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.
Ontology: Human Disease [DOID:0060992]   ( DOID:0060992 )

Relationships
is a type of: autosomal dominant disease bone remodeling disease