Keutel Syndrome Overview

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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.
What are the alternative names for Keutel Syndrome?
  • Keutel syndrome
  • Pulmonic stenosis brachytelephalangism and calcification of cartilages
Who are the top Keutel Syndrome Local Doctors?
Elite in Keutel Syndrome
Maria L. Cancela
Elite in Keutel Syndrome
Maria L. Cancela
Faro, PT 

Maria Cancela practices in Faro, Portugal. Ms. Cancela is rated as an Elite expert by MediFind in the treatment of Keutel Syndrome. Her top areas of expertise are Keutel Syndrome, Paget's Disease of Bone, Hemochromatosis, and Grix Blankenship Peterson Syndrome.

Elite in Keutel Syndrome
Natercia Conceicao
Elite in Keutel Syndrome
Natercia Conceicao
Faro, PT 

Natercia Conceicao practices in Faro, Portugal. Conceicao is rated as an Elite expert by MediFind in the treatment of Keutel Syndrome. Their top areas of expertise are Keutel Syndrome, Paget's Disease of Bone, Grix Blankenship Peterson Syndrome, and CDKL5 Deficiency Disorder.

 
 
 
 
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Elite in Keutel Syndrome
Monzur Murshed
Elite in Keutel Syndrome
Monzur Murshed
Montreal, QC, CA 

Monzur Murshed practices in Montreal, Canada. Murshed is rated as an Elite expert by MediFind in the treatment of Keutel Syndrome. Their top areas of expertise are Keutel Syndrome, Spondyloepiphyseal Dysplasia, Protein Deficiency, and Hypophosphatemia.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center