Keutel syndrome

autorecessive

Keutel syndrome is a rare genetic disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis, and distinctive facial features. It is inherited in an autosomal recessive manner.

Presentation

Individuals with Keutel syndrome typically present with a range of clinical features, including:

• Abnormal cartilage calcification: This is often observed in the trachea, larynx, and auricular cartilage.
• Peripheral pulmonary stenosis: Narrowing of the pulmonary arteries can lead to respiratory issues.
• Distinctive facial features: These may include a broad nasal bridge, a short nose, and a depressed nasal tip.
• Hearing loss: Conductive hearing loss is common due to calcification of the ear cartilage.
• Brachydactyly: Shortening of the fingers and toes.

Genetics

Keutel syndrome is caused by mutations in the MGP gene (Matrix Gla Protein), which plays a crucial role in inhibiting calcification in the body. The disorder follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Keutel syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the MGP gene. Imaging studies such as X-rays and CT scans can reveal abnormal calcification in the cartilage.

Management

There is no cure for Keutel syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Regular monitoring of respiratory function and cardiovascular health.
• Hearing aids or other interventions for hearing loss.
• Surgical interventions may be necessary for severe cases of pulmonary stenosis or other complications.

Epidemiology

Keutel syndrome is extremely rare, with only a few dozen cases reported in the medical literature. It affects both males and females equally.

See also

• Genetic disorder
• Autosomal recessive
• Cartilage
• Pulmonary stenosis
• Hearing loss

External links

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