Details of Disease

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]
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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.