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The microdeletion of 9q22. 3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. In people with a 9q22. 3 microdeletion, seizures have been reported for the first time. The early fusion of certain bones in the skull and a buildup of fluid in the brain are two common physical changes that are often associated with a 9q22. 3 microdeletion. Affected individuals can also have prominent facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip. In addition, 9q22. 3 microdeletions have the characteristic signs of Gorlin syndrome. Basal cell carcinoma, the most common form of skin cancer, is the most common form of skin cancer in people with Gorlin syndrome. Noncancerous tumors of the jaw, also known as keratocystic odontogenic tumors, cause facial swelling and tooth displacement, and tooth displacement. Other types of tumors that occur in some people with Gorlin syndrome include a medulloblastoma's childhood brain tumor and a fibroma that occurs in the heart or a woman's ovaries. Small depressions in the palms of the hands and soles of the feet's skin; unusually large head with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull are all typical signs of Gorlin syndrome.
Nonketotic hyperglycinemia is a condition that is characterised by persistently high blood glycine levels in the body. Nonketotic hyperglycinemia comes in two forms, the acute type and the attenuated form. Intensive sleepiness among affected babies that leads to coma and can persist over time. The signs and symptoms of attenuated hyperglycinemia are similar to, but not as severe as those of the more severe form of the disorder. Children with attenuated nonketotic hyperglycinemia typically reach developmental milestones, although the skills they achieve differ widely. Despite delayed development, many affected children learn to walk and interact with others, most often using sign language. If present, some affected children have seizures; if present, seizures are usually mild and can be treated. Individuals with nonketotic hyperglycinemia may also have certain changes in the brain, which can be seen using magnetic resonance imaging.
Many people with Down syndrome have small hands and feet, as well as a single crease across the palms of the hands. Individuals with Down syndrome are at a higher risk of developing multiple medical disorders. An underactive thyroid gland is found in 15% of people with Down syndrome. Individuals with Down syndrome are also at a higher risk of hearing and vision difficulties. In children with Down syndrome, delayed growth and behavioral difficulties are often identified. Those affected people can have growth difficulties and their speech and language develop later and more slowly than those without Down syndrome. In addition, speech may be difficult to comprehend in people with Down syndrome. Autism spectrum disorders, which affect communication and social interaction, affect a small percentage of people with Down syndrome. People with Down syndrome often experience a gradual decline in thinking ability as they age, usually beginning around age 50. Down syndrome has been attributed to an elevated risk of Alzheimer disease, a brain disorder that causes gradual loss of memory, judgment, and ability to function. Alzheimer disease accounts for about half of adults with Down syndrome. Though Alzheimer disease is typically a disease that affects older adults, people with Down syndrome are more likely to experience this disorder in their fifties or sixties.
Coffin-Siris syndrome is a condition that affects several organ systems. The majority of people with moderate to severe intellectual impairment or delayed development of speech and motor skills such as sitting and walking. Underdevelopment of the tips of the fingers or toes, as well as hypoplasia or absence of nails is another characteristic of Coffin-Siris syndrome. In addition, most people with Coffin-Siris syndrome have facial features that are described as coarse. Some areas of the face and body can have excess hair, but scalp hair is usually sparse. People with Coffin-Siris syndrome can have a variety of facial features, and not all affected people have the same characteristic. In addition, people with this disorder may have an abnormally short head. In addition, many infants and children with Coffin-Siris syndrome have frequent respiratory diseases, difficulty feeding, and a failure to gain weight at the expected rate.
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