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.
Read Also:
- 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 […]
- Syndrome, mucocutaneous lymph node
A syndrome of unknown origin, mainly affecting young children. It causes fever, reddening of the eyes (conjunctivitis) and lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in the neck (cervical lymphadenopathy), and a rash that is raised and bright red (maculoerythematous) in a glove-and- sock fashion over the skin of […]
- Syndrome, Munchhausen
Recurrent feigning of catastrophic illnesses. Munchhausen syndrome is a psychological disorder that is characterized by the recurrent presentation of the patient for treatment of an acute and often dire illness that is, in reality, not present. The person with Munchhausen syndrome usually gives a plausible and dramatic history. All of it is entirely false. The […]
- Syndrome, nervous colon
A common gastrointestinal disorder involving an abnormal condition of gut contractions (motility) characterized by abdominal pain, bloating, mucous in stools, and irregular bowel habits with alternating diarrhea and constipation, symptoms that tend to be chronic and to wax and wane over the years. Although the disorder can cause chronic recurrent discomfort, it does not lead […]