It is a disease involving, inter alia, skeletal system and affects all parts of the body that are made of connective tissue.
Patients have a characteristic body structure, very slim, with elongated limbs and long fingers. The body proportions are incorrect, and the spine is often curved. Breathing is impaired due to the weakness of the chest muscles as well as the curvature of the lateral spine. For this reason, children with Marfan syndrome often develop bronchitis and pneumonia, and many adults suffer from bronchial asthma. The joints are excessively mobile, there are hernias. Patients with Marfan syndrome have a long narrow face, a small lower jaw, a high palate and tightly packed teeth. Mitral valve prolapse or aortic dilatation are observed in the cardiovascular system. This widening can lead to the delamination of this vessel. Lens dislocation, iris abnormalities or congenital cataracts are also characteristic. The intellectual level of patients is usually not abnormal.
Other dominant inheritance disorders include:
- – familial hypercholesterolaemia
- – congenital deafness
- – the dominant form of blindness
- — achondroplazja