Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Costello Syndrome
Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.
  • 350
  • 24 Dec 2020
Topic Review
DYNC2H1 Gene
Dynein Cytoplasmic 2 Heavy Chain 1
  • 369
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 418
  • 24 Dec 2020
Topic Review
NOD2 Gene
nucleotide binding oligomerization domain containing 2
  • 412
  • 24 Dec 2020
Topic Review
Brain-Lung-Thyroid Syndrome
Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.
  • 443
  • 24 Dec 2020
Topic Review
C8B Gene
complement C8 beta chain
  • 490
  • 24 Dec 2020
Topic Review
Costeff Syndrome
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
  • 485
  • 24 Dec 2020
Topic Review
Chromosome 9
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs.
  • 518
  • 24 Dec 2020
Topic Review
NNT Gene
nicotinamide nucleotide transhydrogenase
  • 454
  • 24 Dec 2020
Topic Review
DYNC1H1 Gene
Dynein Cytoplasmic 1 Heavy Chain 1
  • 405
  • 24 Dec 2020
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