Boomerang dysplasia

Term ID

DOID:0050680

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. https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia

References

• GARD:933
• MESH:C536573
• OMIM:112310

Ontology

Human Disease   ( DOID:0050680 )