Krasnow–Qazi syndrome

Krasnow–Qazi Syndrome

Krasnow–Qazi Syndrome is a rare genetic disorder characterized by a combination of neurological, developmental, and physical abnormalities. It is named after Dr. Krasnow and Dr. Qazi, who first described the syndrome in the early 21st century. The syndrome is primarily diagnosed in infancy or early childhood and presents with a variety of symptoms that can vary significantly among affected individuals.

Clinical Features

Individuals with Krasnow–Qazi Syndrome typically exhibit a range of symptoms, including:

• Neurological Abnormalities: These may include seizures, developmental delays, and intellectual disability. The severity of these symptoms can vary widely.
• Physical Abnormalities: Common physical features include distinctive facial features, such as a broad forehead, wide-set eyes, and a small chin. Some individuals may also have microcephaly (a smaller than average head size).
• Developmental Delays: Affected children often experience delays in reaching developmental milestones such as sitting, walking, and talking.
• Behavioral Issues: Some individuals may exhibit behavioral problems, including hyperactivity and difficulty with social interactions.

Genetic Basis

Krasnow–Qazi Syndrome is believed to be caused by mutations in a specific gene, although the exact gene has not yet been definitively identified. The syndrome is thought to follow an autosomal dominant pattern of inheritance, meaning that a single copy of the mutated gene can cause the disorder.

Diagnosis

Diagnosis of Krasnow–Qazi Syndrome is based on clinical evaluation, detailed patient history, and genetic testing. Genetic testing can help identify mutations associated with the syndrome, although not all cases can be confirmed genetically due to the current limitations in understanding the genetic basis of the disorder.

Management

There is no cure for Krasnow–Qazi Syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Seizure Management: Antiepileptic drugs may be prescribed to control seizures.
• Developmental Support: Early intervention programs, including physical, occupational, and speech therapy, can help address developmental delays.
• Behavioral Therapy: Behavioral interventions may be beneficial for managing behavioral issues and improving social skills.

Prognosis

The prognosis for individuals with Krasnow–Qazi Syndrome varies depending on the severity of symptoms and the presence of associated complications. With appropriate management and support, many individuals can achieve a good quality of life.

Also see

• Genetic disorders
• Neurological disorders
• Developmental delay
• Seizure disorder

NIH genetic and rare disease info

• NIH info on Krasnow–Qazi syndrome

Krasnow–Qazi syndrome is a rare disease.

Krasnow–Qazi syndrome Resources
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