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Crossed polysyndactyly

MedGen UID:
358112
Concept ID:
C1867999
Congenital Abnormality
Synonym: Polysyndactyly, Crossed
SNOMED CT: Crossed polysyndactyly (770409009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008286
OMIM®: 175690
Orphanet: ORPHA2935

Definition

A rare genetic congenital limb malformation disorder with characteristics of unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCrossed polysyndactyly
Follow this link to review classifications for Crossed polysyndactyly in Orphanet.

Recent clinical studies

Clinical prediction guides

Goldstein DJ, Kambouris M, Ward RE
Am J Med Genet 1994 Apr 15;50(3):215-23. doi: 10.1002/ajmg.1320500302. PMID: 8042663

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