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Central Y-shaped metacarpal

MedGen UID:
338504
Concept ID:
C1848597
Finding
Synonym: Y-shaped central long bones of hand
 
HPO: HP:0006145

Definition

A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral Y-shaped metacarpal

Conditions with this feature

Orofaciodigital syndrome type 6
MedGen UID:
411200
Concept ID:
C2745997
Disease or Syndrome
Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).
Orofaciodigital syndrome 17
MedGen UID:
1644516
Concept ID:
C4693640
Disease or Syndrome

Recent clinical studies

Diagnosis

Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH
Am J Med Genet 1990 Mar;35(3):360-9. doi: 10.1002/ajmg.1320350310. PMID: 2309783

Clinical prediction guides

Hsieh YC, Hou JW
Am J Med Genet 1999 Sep 17;86(3):278-81. PMID: 10482880

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