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 the penis (hypospadias). Other features (in both girls and boys) include extra fingers and toes (polydactyly) and heart defects at birth (congenital heart disease). The McKusick-Kaufman syndrome (MKKS) is concentrated in the Amish but also occurs in other peoples. About 1-3% of Amish in Lancaster County, Pennsylvania carry one mutated copy of MKKS gene. They do not have the syndrome. To have the MKKS, a child has to inherit two copies of the gene, one from each parent. The protein predicted by the sequence of the MKKS gene appears similar to the chaperonin family of proteins. The chaperonins protect cells from damage by reshaping abnormal proteins. Protein processing thus appears important during the fetal development of the limb, heart, and reproductive system.

Medical dictionary. 2011.

Look at other dictionaries:

  • Syndrome de mckusick kaufman — Autre nom Syndrome hydrohématocolpos polydactylie Référence MIM …   Wikipédia en Français

  • Syndrome de McKusick Kaufman — Référence MIM 236700 Transmission Récessive Chromosome 20p12 Gène MKKS Empreinte parentale Non …   Wikipédia en Français

  • McKusick–Kaufman syndrome — Classification and external resources OMIM 236700 DiseasesDB 33261 McKusick–Kaufman syndrome is a genetic condition associated with …   Wikipedia

  • McKusick-Kaufman syndrome — 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… …   Medical dictionary

  • Syndrome de bardet-biedl — CIM 10 : Q87.8 Le syndrome de Bardet Biedl est un syndrome qui associe : Une rétinite pigmentaire (toujours) Une obésité (souvent) Une polydactylie post axiale (souvent) Un hypogonadisme hypogonadotrope chez les garçons (parfois) Des… …   Wikipédia en Français

  • Syndrome de pallister-hall — Autre nom Hamartoblastome hypothalamique polydactylie Référence MIM …   Wikipédia en Français

  • Syndrome de Pallister-Hall — Référence MIM 146510 Transmission Dominante Chromosome 7p13 Gène GLI3 Empreinte parentale Non …   Wikipédia en Français

  • Syndrome de Bardet-Biedl — Classification internationale des maladies CIM 10 : Q87.8 Le syndrome de Bardet Biedl est un syndrome qui associe : Une rétinite pigmentaire (toujours) Une obésité (souvent) Une polydactylie post axiale (souvent) Un hypogonadisme… …   Wikipédia en Français

  • McKusick, Victor Almon — ▪ 2009       American physician and genome researcher born Oct. 21, 1921, Parkman, Maine died July 22, 2008, Baltimore, Md. was a pioneer in the study of medical genetics, founding president (1988–91) of HUGO (the Human Genome Organisation), and… …   Universalium

  • Kaufman-McKusick syndrome — a rare autosomal recessive disorder of hydrometrocolpos accompanied by postaxial polydactyly, congenital cardiac defects, and sometimes subsequent bilateral hydronephrosis. Manifestations in males include hypospadias and prominent scrotal raphe.… …   Medical dictionary

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