Details of Disease

General Information of Disease (ID: DIS9TZPZ)

• Disease Name: Brachydactyly-elbow wrist dysplasia syndrome
• Synonyms: carpal synostosis with dysplastic elbow joints and brachydactyly; synostosis, carpal, with dysplastic elbow joints and brachydactyly; brachydactyly with Joint dysplasia; LBNBG; brachydactyly elbow wrist dysplasia; LIEBENBERG syndrome; brachydactyly with joint dysplasia; Liebenberg syndrome; brachydactyly-joint dysplasia syndrome
• Definition: Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
• Disease Hierarchy:
  DISVKAZS: Bone development disease
  DIS5Z8U6: Skeletal dysplasia
  DIS9TZPZ: Brachydactyly-elbow wrist dysplasia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008520
  MESH ID: C566090
  UMLS CUI: C1861313
  OMIM ID: 186550
  MedGen ID: 396103
  Orphanet ID: 1275
  SNOMED CT ID: 764437006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MACROH2A1	OTV2DQDD	Supportive	Autosomal dominant	[1]
PITX1	OTA0UN4C	Supportive	Autosomal dominant	[2]

References

• [1] H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. J Med Genet. 2019 Apr;56(4):246-251. doi: 10.1136/jmedgenet-2018-105793. Epub 2019 Feb 2.
• [2] Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27.