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Cartilage - MedlinePlus Genetics

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Last Updated: 10 September 2022

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Cartilage-hair hypoplasia

Short stature and other skeletal abnormalities; fine, sparse hair; and dysfunctional immune system function may lead to recurrent infections. People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. Most people with cartilage-hair hypoplasia are remarkably flexible in certain joints, but they may have trouble stretching their elbows fully. Because the hair's color is lacking in the hair's color, affected individuals have hair that is lighter in color than that of other family members because the hair's color is lacking. Each strand of hair is also thinner, resulting in the hair having a sparse appearance overall. The severity of the intestinal deficiency in cartilage-hair hypoplasia varies from mild to severe. Those with the most acute immune disorders are thought to have severe combined immunodeficiency. Many people with cartilage-hair hypoplasia, as well as those with milder immune deficiencies, are susceptible to respiratory system, ears, and sinuses. In particular, the chicken pox virus is often responsible for deadly infections in people with this condition. Individuals affected by cancer, particularly those skin cancers, cancer of blood-forming cells, and cancer of immune system cells are also at an elevated risk of developing cancer. People with cartilage-hair hypoplasia have gastrointestinal problems. Affected individuals may have Hirschsprung disease, an intestinal disease that results in extreme constipation, intestinal blockage, and colon enlargement.

Source link: https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia


Progressive pseudorheumatoid dysplasia

Progressive pseudorheumatoid dysplasia is a joint disease that progresses with time. Hip pain is a common problem in adolescence. Individuals affected by the spinal cord's abnormally shaped bone flattened bones in the spine that are abnormally shaped, resulting in an abnormally long spine and a short torso. People with PPRD at birth are typically long, but by adulthood, they are usually shorter than their peers. In addition, affected adults have abnormal deposits of calcium around the elbow, knee, and hip joints, as well as poor mobility in all joints, including those of the spine. PPRD is often mistaken for another joint disorder that affects young people, juvenile rheumatoid arthritis. However, joint problems in juvenile rheumatoid arthritis are related to inflammation, while those in PPRD are not.

Source link: https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia


Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia is primarily related to the ends of the long bones in the arms and legs, leading to a disorder of cartilage and bone growth. Although some people with multiple epiphyseal dysplasia have short stature as adults, the majority are of normal height. About 58% of people with recessive multiple epiphyseal dysplasia are born with at least one abnormal characteristic, including an inward-and-upward foot, an opening in the roof of the mouth, unusual finger or toe curving, or ear swelling.

Source link: https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia


Familial osteochondritis dissecans

Familial osteochondritis dissecans is a disease that affects the joints and is associated with abnormal cartilage. Areas of bone damage caused by detachment of cartilage and a portion of the underlying bone from the bone's joint are dissecans in a familial osteochondritis dissecans' joint. Often, the affected joint feels as if it grabs or locks during movement. Short stature and the onset of a joint disease called osteoarthritis dissecans also contribute to familial osteochondritis dissecans. Osteoarthritis is characterized by joint cartilage loss and the underlying bone. Typically the knee, a sporadic osteochondritis dissecans is associated with a single lesion in one joint. Osteritis in the affected joint is common among people with sporadic osteochondritis dissecans, especially if the lesion occurs later in life after the bone has stopped growing.

Source link: https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans


Achondrogenesis

Achondrogenesis is a group of common disorders that affect cartilage and bone growth. Infants with achondrogenesis typically die before birth, are stillborn, or die soon after birth due to respiratory failure. At least three forms of achondrogenesis have been described as type 1A, type 1B, and type 2. The least well understood of the three forms is Achondrogenesis type 1A, which also includes the Houston-Harris variety. Affected infants have a soft out-pouching around the belly-button or near the groin. Infants with achondrogenesis type 2, also known as the Langer-Saldino variety, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. The abdomen is large, and infants with the condition called hydrops fetalis, in which excess fluid builds up in the body before birth, are often affected.

Source link: https://medlineplus.gov/genetics/condition/achondrogenesis

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions