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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCentral Y-shaped metacarpal

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormal upper limb bone morphology
      - Abnormal metacarpal morphology
        Y-shaped metacarpals
        Central 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).

See: Condition Record

Orofaciodigital syndrome 17