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WT limb-blood syndrome

MIM.194350

Friday 30 November 2007

WT syndrome, an autosomal dominant condition, combines hematological abnormalities with mild lib defects. Anemia, pancytopenia, leukemia and lymphoma can occur at varying ages from childhood to middle age. Limb defects include ulnar and radial defects, bifid or hypoplastic thumbs and cutaneous syndactyly. Castleman disease is characterized by tumorous masses of lymphoid tissue showing plasma cell or hyaline vascular type changes in histological specimens.

Synopsis

-  micrognathia
- retrognathia
- sensorineural hearing loss
- cryptorchidism
- radioulnar synostosis
- ulnar deviation
- radial deviation
- 5th finger clinodactyly
- neutropenia
- fifth finger clinodactyly
- short fingers
- ulnar defects
- radial defects
- bifid thumbs
- hypoplastic thumbs
- syndactyly
- absent thumbs
- hypoplastic thumbs
- ulnar deviation of 1st, 3rd fingers
- fifth finger camptodactyly
- irregular hyperpigmentation

- hematological anomalies

  • pancytopenia
  • thrombocytopenia
  • hypoplastic anemia
  • leukemia
  • lymphoma
  • angiofollicular hyperplasia of the hyaline-vascular type (Castleman disease)

- No chromosome breakage

Differential diagnosis

- Fanconi anemia (Fanconi disease)

References

- Vergin C, Cetingül N, Kavakli K, Oztop S, Ozkinay F, Coker M, Nişli G, Soydan S, Balik E, Akar O.A patient with WT syndrome and Castleman disease.Acta Paediatr Jpn. 1995 Feb;37(1):108-12. PMID: 7754753

- McDonald, R.; Mibashan, R. S. : Prolonged remission in Fanconi-type anemia. Helv. Paediat. Acta 6: 566-576, 1968.

- Shahidi, N. T. : Fanconi anemia, dyskeratosis congenita, and WT syndrome. Am. J. Med. Genet. Suppl. 3: 263-278, 1987.

- Smith, A. C. M.; Hays, T.; Harvey, L. A.; Dowman, C. : WT syndrome: a third family. (Abstract) Am. J. Hum. Genet. 41: A84 only, 1987.

- Gonzalez, C. H.; Durkin-Stamm, M. V.; Geimer, N. K.; Shahidi, N. T.; Schilling, R. F.; Rubira, F.; Opitz, J. M. : The WT syndrome—a ’new’ autosomal dominant pleiotropic trait of radial-ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. Birth Defects Orig. Art. Ser. XIII(3B): 31-38, 1977.

- McDonald, R.; Goldschmidt, B. : Pancytopenia with congenital defects (Fanconi’s anaemia). Arch. Dis. Child. 35: 367-372, 1960.