Talo-patello-scaphoid osteolysis

Orpha code: 50809OMIM code: 609655

Definition

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
Classification

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl