Syndrome, cerebrohepatorenal
A genetic disorder, which is also called the Zellweger syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain.
The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.
There is no cure for Zellweger syndrome and there is no standard course of treatment. Infections are guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.
The prognosis (outlook) with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.
The syndrome is caused by mutations (changes) in any of several different genes involved in peroxisome formation. These genes lie on at least two different chromosome locations including chromosome 2 (region 2p15) and chromosome 7 (region 7q21-q22).
The syndrome is named for the Swiss-born pediatrician Hans Zellweger (1909-1990) who came to the US and for many years was at the University of Iowa.
Read Also:
- Syndrome, chromosome 4 short-arm deletion
This syndrome, called the Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears […]
- Syndrome, chromosome 4p-
The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears […]
- Syndrome, Coffin-Lowry
An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. Skeletal changes include kyphosis/scoliosis and pectus […]
- Syndrome, Cogan
A form of arteritis (also referred to as vasculitis) that involves the ear. This condition is called Cogan syndrome after the American ophthalmologist David Glendenning Cogan (1908-93) who first described it. Cogan syndrome features not only problems of the hearing and balance portions of the ear, but also inflammation of the front of the eye […]
- Syndrome, complete androgen insensitivity
A genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones) because of a lack of a receptor for testosterone on the cells. Instead, they are born looking externally like normal girls. Internally there is a short blind-pouch vagina and no uterus, Fallopian tubes, or ovaries. There are testes in the abdomen or […]