WT limb blood syndrome

WT limb blood syndrome
ICD-10	D61.0
OMIM	194350
MeSH	C536751

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

WT limb-blood syndrome is a rare syndrome characterized by hematological and musculoskeletal anomalies often appearing in childhood.

Historical Perspective

WT limb-blood syndrome is named after two families with surnames starting with W and T, in which multiple members had features characteristic of the disease.

Pathophysiology

Genetics

WT limb-blood syndrome has an autosomal dominant pattern of inheritance.

Associated Conditions

• Fanconi anemia
• Leukemia
• Lymphoma

Differentiating from other Disease

WT limb-blood syndrome is differentiated from Fanconi anemia by the autosomal dominant pattern of inheritance and absence of chromosome breakage.

Epidemiology and Demographics

• The prevalence of this disease is <0.1/100 000.
• The disease often appears in childhood.

Diagnosis

Physical Examination

Extremities

• Syndactyly
• Bifid or hypoplastic thumbs
• Ulnar and radial defects