Keutel Syndrome

What is Keutel Syndrome?

It 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.

There are less than 30 cases of the syndrome reported worldwide, to date, making it extremely rare.

What gene changes cause 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 does someone get tested for Keutel Syndrome?

The initial diagnosis of Keutel syndrome can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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