Details of Disease | DrugMAP

General Information of Disease (ID: DISXZCLW)

Disease Name	Boomerang dysplasia
Synonyms	dwarfism with short, bowed, rigid limbs and characteristic facies; Boomerang-like skeletal dysplasia; Boomerang dysplasia
Definition	Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Disease Hierarchy	DISP0R2U: Filamin-related bone disorder DIS9SPWW: Osteochondrodysplasia DISXZCLW: Boomerang dysplasia
Disease Identifiers	MONDO ID MONDO_0007208 MESH ID C536573 UMLS CUI C0432201 OMIM ID 112310 MedGen ID 96579 Orphanet ID 1263 SNOMED CT ID 254054000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLNB	OTPCOYL6	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.