Posts Tagged ‘Cri du Chat’
What is Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome is a condition characterised by the overproduction of uric acid, a nitrogen-containing compound found in urine. Problems with the nervous system and behavioural disturbances are characteristic of this disorder. The overproduction of uric acid can cause gouty arthritis (arthritis caused by uric acid in the joints), as well as kidney and bladder stones. Abnormal involuntary muscle movements such as flexing, jerking, flinging, and flailing are often displayed. Self-injury through biting and head banging is the most common behavioural problem in Lesch-Nyhan patients. Read the rest of this entry »
Definition of Cat cry syndrome
Cat cry syndrome: A disorder caused by the loss of part of the short (p) arm from chromosome 5. Also called the cri du chat (or cri-du-chat) syndrome.
The cat cry syndrome is one of the most common human deletion syndromes with an incidence varying between 1 in 20,000 to 1 in 50,000 births. The frequency of the syndrome among profoundly retarded patients (with an IQ less than 20) is approximately 1 in 100. Read the rest of this entry »
Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical features. The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes. Read the rest of this entry »
What is Apert Syndrome?
The following was developed from information contained in an article entitled Clinical Assessment and Multispecialty Management of Apert Syndrome, written by Lawrence C. Kaplan, MD, and published in Clinics in Plastic Surgery-Vol. 18, No. 2, April 1991. Read the rest of this entry »
What is Color Blindness
What is Color Blindness?
- Color blindness – A condition where a person has a deficiency with color vision – this is mostly an inherited condition and there are certain colors a person cannot distinguished from another. If a person is inflicted with the most common Red/Green form of color blindness they have difficulty telling the difference between shades of red and green colors. This form represents 99% of color blindness. The other form of color deficiency is Blue/Yellow. This form of color blindness is not common and testing is difficult to obtain.
- Red/Green color blindness inflicts about 12% of boys and 1% of girls. Shades of gray color blindness, a.k.a. totally color blind, is very rare. Read the rest of this entry »