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Bifid humerus

MedGen UID:
871080
Concept ID:
C4025545
Anatomical Abnormality
Synonym: Notched long bone in upper arm
 
HPO: HP:0003864

Definition

Clefting affecting the humerus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBifid humerus

Conditions with this feature

Atelosteogenesis type II
MedGen UID:
338072
Concept ID:
C1850554
Disease or Syndrome
Clinical features of SLC26A2-related atelosteogenesis include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with SLC26A2-related diastrophic dysplasia, and long-term survivors have been reported.

Recent clinical studies

Diagnosis

Singh S, Jacob P, Patil SJ, Muranjan M, Shah H, Girisha KM, Bhavani GS
Am J Med Genet A 2024 Mar;194(3):e63422. Epub 2023 Oct 24 doi: 10.1002/ajmg.a.63422. PMID: 37876363
Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A
Am J Med Genet A 2018 Mar;176(3):739-742. Epub 2018 Jan 31 doi: 10.1002/ajmg.a.38623. PMID: 29383834

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