Say–Meyer syndrome

X-linked recessive (carrier mother)

Say–Meyer syndrome is a rare genetic disorder characterized by a combination of neurological and developmental abnormalities. The syndrome is named after the researchers who first described it, Burton Say and Arthur Meyer.

Clinical Features

Individuals with Say–Meyer syndrome typically present with a range of symptoms that may include:

• Intellectual disability
• Seizures
• Microcephaly (abnormally small head size)
• Hypotonia (reduced muscle tone)
• Developmental delay
• Facial dysmorphisms such as a broad nasal bridge, wide-set eyes, and a small jaw

Genetics

Say–Meyer syndrome is believed to be inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in Say–Meyer syndrome have not yet been identified.

Diagnosis

Diagnosis of Say–Meyer syndrome is primarily based on clinical evaluation and the presence of characteristic symptoms. Genetic testing may be used to rule out other conditions with similar presentations. Neuroimaging techniques such as MRI or CT scan may be employed to identify structural abnormalities in the brain.

Management

There is currently no cure for Say–Meyer syndrome. Management of the condition is symptomatic and supportive, focusing on improving the quality of life for affected individuals. This may include:

• Anticonvulsant medications to control seizures
• Physical therapy to address hypotonia and improve motor skills
• Speech therapy to assist with communication difficulties
• Special education programs to support learning and development

Prognosis

The prognosis for individuals with Say–Meyer syndrome varies depending on the severity of symptoms. Early intervention and supportive care can help improve outcomes and enhance the quality of life.

See Also

• Genetic disorder
• Intellectual disability
• Seizure disorder
• Developmental delay

Related Pages

• Genetic testing
• Neuroimaging
• Physical therapy
• Speech therapy
• Special education