Term Name: | Boomerang dysplasia |
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Synonyms: | |
Definition: | An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. |
Ontology: | Human Disease [DOID:0050680] ( DOID:0050680 ) |