Stratton–Parker syndrome
Stratton–Parker syndrome is a rare genetic disorder characterized by a combination of symptoms that include intellectual disability, microcephaly, epilepsy, and distinctive facial features. The syndrome was first described by Stratton and Parker in 1986.
Symptoms and Signs[edit | edit source]
The most common symptoms of Stratton–Parker syndrome include intellectual disability, which can range from mild to severe, and microcephaly, a condition where the head is significantly smaller than normal due to a lack of normal brain development. Other symptoms can include epilepsy, which is characterized by recurrent, unprovoked seizures.
Distinctive facial features associated with Stratton–Parker syndrome can include a prominent forehead, wide-set eyes (hypertelorism), a small jaw (micrognathia), and low-set ears. Some individuals with the syndrome may also have a high-arched palate (palatoschisis) and a short neck.
Causes[edit | edit source]
Stratton–Parker syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. It is thought to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis[edit | edit source]
Diagnosis of Stratton–Parker syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Stratton–Parker syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to control seizures.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Stratton–Parker syndrome is a rare disease.
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