Angioosteohypotrophic syndrome

Orpha code: 75508OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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