What is Keutel syndrome?
Keutel syndrome is a rare genetic syndrome. It is characterized by the calcification (when calcium salts accumulate in body tissue) of cartilage in the ears, nose, throat, voice box, and ribs of those affected.
What gene change causes Keutel syndrome?
Changes in the MGP gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Keutel syndrome?
The calcification of cartilage in multiple parts of the body is the main symptom of the syndrome.
Other symptoms include unique facial features such as a long or elongated face, a prominent nasal bridge, a decreased midface size, a wide nose, and short fingers and toes.
Other possible symptoms include deafness, mild intellectual disability, recurrent middle ear infections, increased blood pressure in the lungs (pulmonic stenosis), and ventricular septal defect (a congenital heart anomaly).
How is it diagnosed?
To find out if someone has a diagnosis of Keutel syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
