A disturbance of lipid (fat) metabolism that involves the partial or total absence of fat and often the abnormal deposition and distribution of fat in the body. There are a number of different lipodystrophy syndromes. Some of them are congenital (present at birth) while others are acquired later. Some are genetic (inherited), others not. One lipodystrophy syndrome appears associated with the protease inhibitor drugs used in the treatment of AIDS. In this lipodystrophy syndrome, the face, arms and legs become thin due to loss of subcutaneous fat, which typically results in weight loss. The skin becomes dry.
The lips crack. . How the protease inhibitors induce this lipodystrophy syndrome is unknown.
- Syndrome, locked-in
A neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. The locked-in syndrome is usually a complication of a cerebrovascular accident (a stroke) in the base of the pons in the brainstem. The patient is alert and fully conscious but cannot move. […]
- Syndrome, Martin-Bell
Better known as the fragile X syndrome, the most common heritable form of mental retardation. Fragile X syndrome is due to mutation (changes) at the fragile X site and so perforce is X-linked (carried on the X chromosome). Although it is usually more severe in males than females, the syndrome is due to a dynamic […]
- Syndrome, MASA
lumbar lordosis (sway back). MASA is inherited as an X-linked trait and so affects mainly boys. Alternative names for MASA include clasped thumb and mental retardation, congenital clasped thumb with mental retardation, adducted thumb with mental retardation, and the Gareis-Mason syndrome.
- Syndrome, MASS
A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. Hence, the acronym MASS (Mitral valve, Aorta, Skeleton, Skin). The MASS syndrome is due to a mutation in the fibrillin 1 gene FBN1, the same gene as is mutated in Marfan syndrome.
- Syndrome, McKusick-Kaufman
A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother’s hormones during pregnancy. Boys with this disease have the opening for urine on the underside of […]