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Developmental disability - MedlinePlus Genetics

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Last Updated: 23 September 2022

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9q22.3 microdeletion

Microdeletion in the 9q22. 3 microdeletion is a chromosomal transition in which a small piece of chromosome 9 is deleted in each cell. More frequently affected individuals have permanent developmental disabilities, as well as intellectual impairment and learning difficulties. About 20% of people with a 9q22. 3 microdeletion experience overgrowth - which results in increased height and weight in comparison to unaffected peers. Moreover, affected individuals can also have distinctive 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 produce the typical characteristics of Gorlin syndrome. Basal cell carcinoma, the most common type 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, which can cause facial swelling and tooth displacement, are common among those with the disorder. Other forms of tumors that may be present in some people with Gorlin syndrome include a form of childhood brain tumor called a medulloblastoma and a particular benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Small depressions in the palms of the hands and soles of the feet; unusually large head shape with a prominent forehead; and skeletal abnormalities related to the spine, ribs, or skull are among the common signs of Gorlin syndrome.

Source link: https://medlineplus.gov/genetics/condition/9q223-microdeletion


Nonketotic hyperglycinemia

Unketotic hyperglycinemia is a disorder that is characterised by elevated glycine levels in the body. Nonketotic hyperglycinemia has two kinds, the acute form and the attenuated form. Affected babies suffer with extreme sleepiness that escalates with time and can lead to coma. The signs and symptoms of attenuated nonketotic hyperglycinemia are similar to, but not necessarily less severe than, those of the more severe form of the disease. Children with attenuated nonketotic hyperglycinemia typically reach developmental milestones, but the skills they achieve vary widely. Despite delayed growth, many disadvantaged children eventually learn to walk and are able to interact with others, many using sign language. Individuals with nonketotic hyperglycinemia may also experience certain changes in the brain, which can be seen with magnetic resonance imaging.

Source link: https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia


Down syndrome

People with Down syndrome have a flattened appearance to the face, outside the eyes' pointing upwards, small ears, a short neck, and a tongue that tends to stick out of the mouth. 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 have an elevated risk of experiencing multiple medical disorders. An underactive thyroid gland is found in 15% of people with Down syndrome. Individuals with Down syndrome also have an elevated risk of hearing and vision difficulties. In addition, a small minority of Down syndrome children have cancerous cells in their bloodstream cells. Those people with Down syndrome can have growth difficulties and their speech and language develop later and more slowly than those without. A small number of people with Down syndrome are also diagnosed with autism spectrum disorders, which influence communication and social interaction. People with Down syndrome have a gradual decline in thinking ability as they get older, usually starting around age 50. Down syndrome is also associated with an elevated risk of Alzheimer disease, a brain disorder that results in gradual loss of memory, judgment, and ability to function. Alzheimer disease affects just half of adults with Down syndrome. Although Alzheimer disease is common in older adults, people with Down syndrome often experience this disease earlier, in their fifties or sixties, rather than in their fifties or sixties.

Source link: https://medlineplus.gov/genetics/condition/down-syndrome


Coffin-Siris syndrome

Coffin-Siris syndrome is a disorder that affects several organ systems in different ways. Coffin-Siris syndrome also involves the underdevelopment of the fingers or toes' tips, as well as hypoplasia or absence of nails. In addition, most people with Coffin-Siris syndrome have facial features that are described as coarse. Affected individuals may have excessive hair on certain areas of the face and body, but scalp hair is usually sparse. People with Coffin-Siris syndrome can have a variety of facial features, but not all affected individuals have the same features. In addition, people with this disorder may have an abnormally small head. In addition, many infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and a failure to gain weight at the expected rate. Short stature, low muscle tone, and abnormally loose joints are among the signs and symptoms that can be related to this condition.

Source link: https://medlineplus.gov/genetics/condition/coffin-siris-syndrome

* 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