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WT limb-blood syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Radial-ulnar hypoplasia with bone marrow failure and/or leukemia; WTsyndrome
SNOMED CT: WT limb blood syndrome (719019000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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:0008688
OMIM®: 194350
Orphanet: ORPHA3466


Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWT limb-blood syndrome
Follow this link to review classifications for WT limb-blood syndrome in Orphanet.

Recent clinical studies


Ward RE, Bixler D, Provisor AJ, Bader P
Am J Med Genet Suppl 1986;2:207-14. doi: 10.1002/ajmg.1320250625. PMID: 3146292

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