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1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
Trisomy 18 typically results in life-threatening complications for a baby, but one little girl, Georgia, is proof of how one can live with it. Living with trisomy 18: How a 6-year-old girl is ...
Frequency. 1 in 12,000 to 20,000 people [6] Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep ...
Cardiology. Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. [2] It is estimated to account for 2-3% of all congenital heart disease. [3] Early signs and symptoms include poor feeding, cyanosis, and ...
Trisomy 18 typically results in life-threatening complications for a baby, but one little girl, Georgia, is proof of how one can live with it.
1 in 10,000 [ 2 ] Beckwith–Wiedemann syndrome (/ ˈbɛkˌwɪθˈviːdə.mən /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and ...
Specialty. Neurology. Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [ 2 ] progressive, [ 3 ] recessive genetic disorder of the autonomic nervous system [ 2 ] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
The dementia that occurs in Down syndrome is due to an excess of amyloid beta peptide produced in the brain and is similar to Alzheimer's disease, which also involves amyloid beta build-up. [108] Amyloid beta is processed from amyloid precursor protein, the gene for which is located on chromosome 21. [ 108 ]