Angioosteohypotrophic syndrome

Orpha code: 75508OMIM code:

Definicja

A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Phlebectatic osteohypoplastic angiodysplasia
Zespół Servelle'a i Martorella
Servelle-Martorell syndrome
Kod ORPHA
75508
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

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