Coffin Lowry syndrome

Coffin–Lowry syndrome
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Coffin–Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. It is an X-linked dominant condition, meaning it is caused by mutations in a gene located on the X chromosome. The syndrome is named after Dr. Grange S. Coffin and Dr. Robert B. Lowry, who first described the condition in the 1960s and 1970s.

Genetics

Coffin–Lowry syndrome is caused by mutations in the RPS6KA3 gene, which encodes the ribosomal protein S6 kinase alpha-3. This gene is located on the X chromosome at Xp22.2. The RPS6KA3 gene plays a crucial role in cell signaling pathways that regulate cell growth and development. Mutations in this gene lead to the clinical manifestations of CLS.

Since CLS is an X-linked dominant disorder, it predominantly affects males, who have only one X chromosome. Females, who have two X chromosomes, may also be affected but typically have milder symptoms due to the presence of a second, normal copy of the gene.

Clinical Features

Individuals with Coffin–Lowry syndrome often present with a range of clinical features, including:

• Intellectual Disability: Most individuals with CLS have moderate to severe intellectual disability.
• Facial Dysmorphism: Characteristic facial features include a prominent forehead, widely spaced eyes (hypertelorism), a broad nose, and a downturned mouth.
• Skeletal Abnormalities: These may include short stature, kyphoscoliosis, and abnormalities of the hands and feet, such as tapering fingers.
• Hypotonia: Decreased muscle tone is common in individuals with CLS.
• Cardiac Anomalies: Some individuals may have heart defects, such as mitral valve prolapse.
• Hearing Loss: Sensorineural hearing loss can occur in some cases.

Diagnosis

Diagnosis of Coffin–Lowry syndrome is based on clinical evaluation and genetic testing. Genetic testing can confirm the presence of mutations in the RPS6KA3 gene. Prenatal testing and genetic counseling are recommended for families with a history of CLS.

Management

There is no cure for Coffin–Lowry syndrome, and treatment is symptomatic and supportive. Management may include:

• Educational Support: Special education programs tailored to the individual's needs.
• Physical Therapy: To improve muscle tone and mobility.
• Speech Therapy: To address communication difficulties.
• Regular Monitoring: For potential complications such as cardiac issues and hearing loss.

Prognosis

The prognosis for individuals with Coffin–Lowry syndrome varies depending on the severity of symptoms and associated complications. With appropriate support and management, individuals can lead fulfilling lives.

Also see

• X-linked dominant inheritance
• Intellectual disability
• Genetic counseling
• Skeletal dysplasia