Poitou

Poitou Syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, Intellectual disability, Facial dysmorphism
Complications	Seizures, Behavioral issues
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, Therapies
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Poitou Syndrome is a rare genetic disorder characterized by a combination of developmental delay, intellectual disability, and distinct facial dysmorphism. The condition is named after the region of Poitou in France, where it was first identified.

Signs and Symptoms

Individuals with Poitou Syndrome typically present with developmental delay and intellectual disability. Additional features may include facial dysmorphism, such as a prominent forehead, wide-set eyes, and a flat nasal bridge. Some individuals may also experience seizures and behavioral issues.

Causes

Poitou Syndrome is caused by a genetic mutation that affects normal development. The specific gene involved has not been fully identified, but it is believed to be inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations, and the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene.

Diagnosis

Diagnosis of Poitou Syndrome is primarily based on clinical evaluation and genetic testing. Genetic testing can confirm the presence of mutations associated with the syndrome. Early diagnosis is important for managing symptoms and providing appropriate supportive care.

Treatment

There is no cure for Poitou Syndrome, and treatment is focused on managing symptoms and improving quality of life. Supportive care may include physical therapy, occupational therapy, and speech therapy. Seizures can be managed with anticonvulsant medications. Behavioral issues may require intervention from a psychologist or psychiatrist.

Prognosis

The prognosis for individuals with Poitou Syndrome varies depending on the severity of symptoms. With appropriate supportive care and interventions, individuals can achieve improved outcomes and quality of life.

See Also

• Genetic disorders
• Developmental disabilities
• Intellectual disability

External Links

• Genetic Disorders Overview
• Rare Diseases Information