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 mutation (a trinucleotide repeat) that can change in length and hence in severity from generation to generation, from person to person, and even within a given person. The fragile X syndrome is known as the Martin-Bell syndrome in honor of their discovery of it in 1943.
Read Also:
- 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 […]
- Syndrome, MELAS
An eye disease called Leber’s hereditary optic atrophy; and A type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers. The mitochondria, as mentioned, are normal structures located outside the nucleus in the cell’s cytoplasm. Each mitochondrion has a chromosome made of DNA that is quite different from the better known […]
- Syndrome, Meniere
A condition with recurrent vertigo accompanied by ringing in the ears (tinnitus) and deafness. Symptoms include vertigo, dizziness, nausea, vomiting, loss of hearing (in the affected ear), and abnormal eye movements. Meniere syndrome or disease is due to dysfunction of the semi- circular canals (endolymphatic sac) in the inner ear. The treatment of Meniere disease […]