Keutel syndrome

Keutel Syndrome

Keutel Syndrome (pronounced: Koy-tel Sin-drome) is a rare genetic disorder characterized by abnormal cartilage growth, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and midfacial hypoplasia.

Etymology

The syndrome is named after J. Keutel, a German pediatrician who first described the condition in 1971.

Definition

Keutel Syndrome is a autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome. The syndrome is caused by mutations in the MGP gene, which is responsible for producing a protein that regulates the growth and development of cartilage and bone.

Symptoms

The most common symptoms of Keutel Syndrome include:

• Abnormal cartilage growth: This can lead to a variety of issues, including tracheal stenosis, a narrowing of the windpipe that can cause breathing difficulties.
• Brachytelephalangism: This refers to the shortening of the bones in the fingers and toes.
• Peripheral pulmonary stenosis: This is a narrowing of the arteries that carry blood from the heart to the lungs.
• Hearing loss: This is often due to abnormalities in the bones of the middle ear.
• Midfacial hypoplasia: This refers to underdevelopment of the middle part of the face.

Related Terms

• Autosomal recessive
• MGP gene
• Tracheal stenosis
• Brachytelephalangism
• Peripheral pulmonary stenosis
• Hearing loss
• Midfacial hypoplasia

See Also

• List of genetic disorders
• Cartilage
• Bone development

External links

• Medical encyclopedia article on Keutel syndrome
• Wikipedia's article - Keutel syndrome

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