Learn About Keutel Syndrome

What is the definition of Keutel Syndrome?
Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. The majority of cases of Keutel syndrome are diagnosed during childhood. This condition is inherited in an autosomal recessive fashion and is caused by genetic changes in the MGP gene.
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What are the alternative names for Keutel Syndrome?
  • Keutel syndrome
  • Pulmonic stenosis brachytelephalangism and calcification of cartilages
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Keutel Syndrome?

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