MSK Genetic/Developmental Flashcards
Achondroplasia
A genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate. This form of dysplasia accounts for greater than 90% of cases of disproportionate short stature, also known as dwarfism.
Cleft Lip/Palate
Birth defects that occur when a baby’s lip or mouth do not form properly during pregnancy. Together, these birth defects commonly are called “orofacial clefts”. The roof of the mouth (palate) is formed between the sixth and ninth weeks of pregnancy. A cleft palate happens if the tissue that makes up the roof of the mouth does not join together completely during pregnancy. For some babies, both the front and back parts of the palate are open. For other babies, only part of the palate is open. Cleft lip and cleft palate are thought to be caused by a combination of genes and other factors, such as things the mother comes in contact with in her environment, or what the mother eats or drinks, or certain medications she uses during pregnancy.
Congenital Hip Dislocation (CHD)
Also called Developmental dysplasia of the hip (DDH). A condition where the “ball and socket” joint of the hip does not properly form in babies and young children. The condition can create a gradual misalignment or dislocation of the hip, which can wear down cartilage and lead to early-onset osteoarthritis of the hip. A dysplastic hip can also lead to an acetabular labral tear (a torn labrum, which is a soft tissue that lines and secures the hip joint socket). The cause of CHD is unknown in many cases. Contributing factors include low levels of amniotic fluid in the womb, breech presentation, which occurs when your baby is born hips first, and a family history of the condition.
Duchenne Muscular Dystrophy (DMD)
A genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies.
Dupuytren’s Contracture
A painless condition that causes one or more fingers to bend toward the palm of the hand. The affected fingers can’t straighten completely. Knots of tissue form under the skin. They eventually create a thick cord that can pull the fingers into a bent position.
Femoral Anteversion
An inward twisting of the femur. Femoral anteversion causes a child’s knees and feet to turn inward and have a “pigeon-toed” appearance. This is also called in-toeing. Femoral anteversion occurs in up to 10 percent of children.
Internal Tibial Torsion
An inward twisting of the tibia, which leads to in-toeing of the foot. Although it may not be noticeable until your child starts to walk, this condition is often present since birth. Internal tibial torsion usually affects both legs and could be related to the child’s position in the uterus.
Juvenile Rheumatoid Arthritis
A form of arthritis in children. Arthritis causes joint swelling (inflammation) and joint stiffness. JIA is arthritis that affects one or more joints for at least 6 weeks in a child age 16 or younger. Unlike adult rheumatoid arthritis, which is ongoing (chronic) and lasts a lifetime, children often outgrow JIA. But the disease can affect bone development in a growing child. Now called Juvenile idiopathic arthritis (JIA).
Legg-Calve-Perthes disease
A childhood condition that occurs when blood supply to the ball part (femoral head) of the hip joint is temporarily interrupted and the bone begins to die. This weakened bone gradually breaks apart and can lose its round shape
Marfan Syndrome
A genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage.
Methyl Tetrahydrofolate Reductase Deficiency
(MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine.
Muscular Dystrophy
A group of muscle diseases caused by mutations in a person’s genes. Over time, muscle weakness decreases mobility, making everyday tasks difficult.
Osgood-Schlatter Disease
A condition that causes pain and swelling below the knee joint, where the patellar tendon attaches to the top of the shinbone (tibia), a spot called the tibial tuberosity. There may also be inflammation of the patellar tendon, which stretches over the kneecap.
Osteitis Deformans
A chronic condition in which both the breakdown and regrowth of bone are increased. Osteitis deformans occurs most frequently in the pelvic and leg bones, skull, and lower spine. It is most common in older individuals, and may lead to bone pain, deformities, and fractures. Also called Paget’s disease.
Osteochondrosis
A self-limiting developmental derangement of normal bone growth, primarily involving the centers of ossification in the epiphysis. It usually begins in childhood as a degenerative or necrotic condition. By definition, osteochondrosis is an aseptic ischemic necrosis.
Osteogenesis Imperfecta (OI)
An inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
Scoliosis
A sideways curvature of the spine that most often is diagnosed in adolescents. While scoliosis can occur in people with conditions such as cerebral palsy and muscular dystrophy, the cause of most childhood scoliosis is unknown. Most cases of scoliosis are mild, but some curves worsen as children grow.
Subluxation of Radial Head
A common injury in young children in which the radial head slips under the annular ligament resulting in pain and inability to supinate the forearm. Also called Nursemaid’s Elbow.
