Catel-Manzke Syndrome
Description
Catel-Manzke Syndrome (CMS) is a rare genetic disorder that affects the development of bones and cartilage, leading to a distinctive facial appearance and skeletal abnormalities. This blog post will provide comprehensive information on CMS, covering its causes, symptoms, diagnosis, management strategies, and ways to thrive with the condition.
Genes Involved
Catel-Manzke Syndrome is caused by mutations in the RMRP gene. This gene plays a vital role in the production of a molecule essential for the proper functioning of mitochondria, the powerhouses of our cells.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Catel-Manzke Syndrome can be challenging, as the severity of the condition varies widely. Some common features include:
- Distinctive Facial Features: A small, flat face with a prominent forehead, widely spaced eyes (hypertelorism), a small nose, and a receding chin.
- Skeletal Abnormalities: Short stature, underdeveloped jaw (micrognathia), and a narrow chest.
- Neurological Issues: Mild intellectual disability, developmental delays, and seizures are possible but not always present.
- Other Symptoms: Hearing loss, vision problems, and dental issues may also occur.
Causes
The root cause of Catel-Manzke Syndrome lies in mutations in the RMRP gene. These mutations disrupt the production of a crucial molecule for mitochondrial function, leading to abnormal cellular activity and the development of the characteristic features of CMS.
Inheritance/recurrence risk
Catel-Manzke Syndrome is inherited in an autosomal dominant pattern. This means that if one parent carries a mutated RMRP gene, there is a 50% chance that their child will inherit the mutation and develop the syndrome.
