Talo-patello-scaphoid osteolysis

Orpha code: 50809OMIM code: 609655

Definicja

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Singh-Williams-McAlister syndrome
Zespół Singh, Williamsa i McAlistera
Kod ORPHA
50809
Kod OMIM
609655
Kod ICD10
-
Kod ICD11
-

No additional description.

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