WT limb blood syndrome: Difference between revisions
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Revision as of 18:17, 2 August 2012
WT limb blood syndrome | |
ICD-10 | D61.0 |
---|---|
OMIM | 194350 |
MeSH | C536751 |
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
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