Advanced searches left 3/3

Cartilage - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 January 2023

* If you want to update the article please login/register

Cartilage-hair hypoplasia

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature, short, sparse hair, and impaired immune system function that can result in recurrent infections. People with cartilage-hair hypoplasia have unusually short legs and short stature from birth. Most people with cartilage-hair hypoplasia are remarkably flexible in certain joints, but they may have a problem with stretching their elbows fully. Since the root of each hair, which contains some of the pigment that helps with the hair's color, is missing, impacted individuals have hair that is lighter in color than that of other family members. The missing core makes each strand of hair thinner, resulting in the hair's sparse appearance overall. The degree of the immune deficiency in cartilage-hair hypoplasia varies from mild to severe. Those with the most acute immune disorders are thought to have significant combined immunodeficiency. In particular, the chicken pox virus is often associated with infectious infections in people with this condition. Affected people are also at an elevated risk of developing cancer, particularly certain skin cancers, cancer of blood-forming cells, and cancer of immune system cells are among the conditions. gastrointestinal problems can be experienced by those with cartilage-hair hypoplasia. Individuals impacted by Hirschsprung disease, an intestinal disease that causes severe constipation, intestinal blockage, and colon enlargement can be affected by the colon enlargement. In addition, narrowing of the anus or blockage of the esophagus may occur.

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


Progressive pseudorheumatoid dysplasia

Progressive pseudorheumatoid dysplasia is a joint disease that progresses with time. Some of the signs and symptoms that come with age include permanently bent fingers, enlarged finger and knee joints, and a reduced amount of space between the bones at the hip and knee joints. Hip pain is a common problem in adolescence. People with PPRD are generally short at birth, but by adulthood, they are often shorter than their peers. Affected adults also have abnormal calcium deposits 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 disease that affects young people named juvenile rheumatoid arthritis. However, joint problems in juvenile rheumatoid arthritis are exacerbated by inflammation, although those in PPRD are not.

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


Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia is a disorder of cartilage and bone formation that is mainly responsible for the ends of the long bones in the arms and legs. Although some people with multiple epiphyseal dysplasia have short stature as adults, the majority are of normal height. At least one abnormal occurrence of recessive multiple epiphyseal dysplasia is a child's inward- and upward-turning foot, an opening in the roof of the mouth, unusual curling of the fingers or toes, or ear swelling.

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


Familial osteochondritis dissecans

Cartilage is a tough but flexible tissue that protects the bones at joints and is also part of the growing skeleton. Bone damage caused by cartilage detachment of cartilage and a portion of the underlying bone from the end of the bone at a joint is a characteristic of familial osteochondritis dissecans. Short stature and the onset of a joint disorder called osteoarthritis dissecans at an early age are among the familial osteochondritis dissecans' characteristic features. Osteoarthritis is characterized by joint cartilage degeneration and the underlying bone. This condition, sporadic osteochondritis dissecans, is associated with a single lesion in one joint, most often the knee. Osteritis in the affected joint is common among individuals 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 chronic disorders that influence cartilage and bone growth. Infants with achondrogenesis usually die before birth, are stillborn, or die shortly after birth from respiratory failure, as a result of serious health conditions, and infants with achondrogenesis typically die before birth, are stillborn, or die shortly after birth. The least well understood of the three styles is Achondrogenesis type 1A, also known as the Houston-Harris variety, is the least well understood of the three forms. Achondrogenesis type 1B, also known as the Parenti-Fraccaro variety, is characterized by short legs, a narrow chest, and a prominent, rounded abdomen. A soft out-pouching around the belly-button or near the groin is common in affected infants. Infants with achondrogenesis type 2, also known as Langer-Saldino, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. The abdomen is enlarged, and infants with the condition known as hydrops fetalis, in which excess fluid builds up in the body prior to birth, are often affected infants.

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