Renpenning's syndrome
Renpenning's syndrome (pronounced: ren-pen-ningz sin-drohm) is a rare genetic disorder primarily affecting males. It is characterized by intellectual disability, small head size (microcephaly), and various physical abnormalities.
Etymology
The syndrome is named after Dr. Paul Renpenning, a Canadian pediatrician who first described the condition in 1962.
Symptoms
The primary symptom of Renpenning's syndrome is intellectual disability, which is usually severe. Other common symptoms include microcephaly, a condition where the head is significantly smaller than normal, and distinctive facial features such as a long, narrow face and prominent forehead. Some affected individuals may also have skeletal abnormalities, growth retardation, and behavioral problems.
Causes
Renpenning's syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein that is involved in various processes in the body, including the regulation of gene activity and the production of proteins. Mutations in the PQBP1 gene disrupt these processes, leading to the symptoms of Renpenning's syndrome.
Diagnosis
Diagnosis of Renpenning's syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the PQBP1 gene.
Treatment
There is currently no cure for Renpenning's syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage behavioral problems.
Related Terms
External links
- Medical encyclopedia article on Renpenning's syndrome
- Wikipedia's article - Renpenning's syndrome
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