Conditions Accompanied by Various Syndromes

Achondroplasia is a genetically inherited cartilage development disorder. It causes a reduction in the rib cage at a rate of 35-53%. Compared to individuals of average height, the chest circumference was reduced by 25-30%. Especially in men, while the horizontal diameter is closer to normal, the anterior posterior diameter is considerably smaller.

As in Poland syndrome, there are problems with underdevelopment and absence of the breast on the affected side and underdevelopment or absence of structures in the chest wall. Unlike Poland syndrome, absence of pectoral muscle is not observed.

Noonan Syndrome is characterized by short stature and congenital heart disease. It is genetically inherited. It occurs equally in men and women. It has components that affect many organs. The skeletal component includes chest wall deformities and pectus excavatum.

Marfan Syndrome is a genetic disease. It can manifest itself with individual components, or it can have so many components that it can cause problems from the neonatal period. It most commonly presents with eye, heart and musculoskeletal anomalies. However, it can affect other organs as well. Among the skeletal anomalies, deformities of the rib cage are also seen. Pectus excavatum is worth one point in the criteria developed for the diagnosis of Marfan syndrome.

This genetic condition is also called “glass bone disease” among the people. It is associated with the fact that the bones can break very easily in these patients. It is associated with a problem in making type 1 collagen. Although it is rare, it has been reported in the literature that it affects the chest wall bones.

Ehler Danlos Syndrome is also an inherited disease. It is caused by a structural defect in the body’s filler tissues, called connective tissue. The looseness of the tissues is in the foreground. Therefore, it can cause problems with the skin, joints and blood vessels. Extreme flexibility is typical. Pectus excavatum can often be seen as a component of this syndrome.

Spinal Muscular Arophy (SMA) is also a genetic condition. It is a condition that affects the nervous system and therefore muscle movements and shows progressive features. It is rare. All SMA 1 patients and some SMA 2 patients may develop pectus excavatum if they are not treated in the early period due to the uncontrolled contraction of the diaphragm muscle, due to the fact that their rib cage collapses inward while breathing instead of expanding outward.

Vascular problems (ballooning and ruptures in the vessels called aneurysms), skeletal findings (including pectus excavatum), some features of the head and face (widely spaced eyes, strabismus, cleft palate, premature closure of the fontanelles in the skull), and skin findings (velvety and translucent skin, easy bruising and abnormal scarring) is a genetic syndrome. The biggest problem is ballooning in the veins. Therefore, it requires frequent follow-up.

Celiac disease is basically a disease that occurs as a result of the development of an allergic reaction to the protein called “Gluten”, which is found in grains such as wheat, barley and rye, and as a result, some changes occur in the initial part of the small intestine. Accordingly, the absorption of some food components such as iron and folic acid from the intestine to the blood is impaired and additional problems may arise due to their deficiencies. Familial transmission has been reported to be frequent. It has been reported that approximately 1% of celiac patients are accompanied by pectus excavatum for an unexplained reason.

Charcot-Marie Tooth Disease is a disease associated with the nervous system. After the damage to the nerves outside the brain and spinal cord, weakness is observed in the hand and foot muscles. One of the components of this syndrome is pectus excavatum or other chest wall deformity and this component may accompany the disease.

Atelosteogenesis Syndromes is a syndrome with various types. Their common feature is the presence of a problem related to the development of bones in the body. Affected individuals are born with feet that turn inward and upward (clubfoot) and dislocations of the hip, knee, and elbow. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of limb bone abnormalities, individuals with this condition have very short arms and legs. Various chest wall deformities and pectus excavatum may accompany as a result of affecting the sternum bone along with all bones.

There are basically 3 components of the syndrome. These; It is the presence of a cleft palate as a result of insufficient development of the lower jaw, the tongue being pulled back, and the lack of fusion of the palate bones. Pectus excavatum, rib anomalies, and underdevelopment of the lower ends of the scapula are other common components.

Sotos Syndrome is a syndrome characterized by excessive growth of bones. Birth weight and height are high. The arms and legs are large, the hands and feet are large. A long narrow face and redness on the cheeks are typical. The skull is extremely large. Apart from this, cardiovascular, urinary tract and spine anomalies are common. The brain is underdeveloped and may be accompanied by learning difficulties and mental retardation. Chest wall deformities may also accompany due to excessive growth in the bones.

Congenital elevation of one scapula. It can often be accompanied by other bone pathologies. Rib cage deformities and pectus excavatum are among them.

Radial Club Syndrome is characterized by underdevelopment of the Radius bone, which is the main bone that forms the forearm. It is also seen that the hand is bent at the wrist towards the thumb. The thumb may be absent or underdeveloped. This condition can be alone or be a part of various genetic syndromes. It has been reported in the literature that pectus excavatum may accompany when radial club is seen as a part of Holt-Oram Syndrome.

There is a problem in the junction of the ribs with the spine. The ribs are fused together. The rib cage appearance is similar to a “crab” shape. There may also be nervous system disorders due to spinal anomalies. If due to rib anomalies, chest wall deformities and pectus excavatum can be observed.