Which are the symptoms of Catel Manzke Syndrome?

Catel Manzke Syndrome (CMS) is a rare genetic disorder that affects the development of bones and other structures in the body. It is characterized by a variety of symptoms that can vary in severity from person to person.

Facial abnormalities: Individuals with Catel Manzke Syndrome often have distinct facial features. These may include a small jaw (micrognathia), a flat nasal bridge, widely spaced eyes (hypertelorism), and a small mouth. These facial abnormalities can contribute to difficulties with feeding and breathing.

Skeletal abnormalities: CMS can cause various skeletal abnormalities, such as short stature, abnormal curvature of the spine (scoliosis), and joint contractures. Joint contractures occur when certain joints become permanently fixed in a bent or flexed position, limiting mobility.

Intellectual disability: Many individuals with Catel Manzke Syndrome have intellectual disability, ranging from mild to severe. Intellectual disability can affect cognitive abilities, learning, and overall development.

Delayed development: Children with CMS may experience delays in reaching developmental milestones, such as sitting, crawling, and walking. These delays can be attributed to both the skeletal abnormalities and intellectual disability associated with the syndrome.

Respiratory problems: Due to the facial abnormalities and potential airway obstruction, individuals with CMS may have difficulties with breathing. This can lead to respiratory infections and an increased risk of respiratory complications.

Cardiac abnormalities: Some individuals with Catel Manzke Syndrome may have congenital heart defects, such as atrial septal defects or ventricular septal defects. These abnormalities can affect the structure and function of the heart.

Other features: Additional features that may be present in individuals with CMS include hearing loss, dental abnormalities, and abnormalities of the fingers and toes.

It is important to note that the symptoms and severity of Catel Manzke Syndrome can vary widely. Not all individuals will exhibit all of the mentioned symptoms, and the presentation of the syndrome can be influenced by various factors, including genetic variations.