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Topic Review
Nonsyndromic Holoprosencephaly
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face.
  • 836
  • 24 Dec 2020
Topic Review
Primary Sclerosing Cholangitis
Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.
  • 836
  • 24 Dec 2020
Topic Review
PKP2 Gene
plakophilin 2
  • 836
  • 25 Dec 2020
Topic Review
Myoclonus-Dystonia
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
  • 835
  • 23 Dec 2020
Topic Review
Weissenbacher-Zweymüller Syndrome
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
  • 835
  • 23 Dec 2020
Topic Review
ZFP57 Gene
ZFP57 zinc finger protein
  • 835
  • 24 Dec 2020
Topic Review
Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body.
  • 834
  • 23 Dec 2020
Topic Review
Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.
  • 834
  • 24 Dec 2020
Topic Review
Cushing Disease
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms.
  • 834
  • 24 Dec 2020
Topic Review
ABCG5 Gene
ATP binding cassette subfamily G member 5
  • 834
  • 24 Dec 2020
Topic Review
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
  • 834
  • 24 Dec 2020
Topic Review
Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
  • 834
  • 25 Dec 2020
Topic Review
CYP19A1 Gene
Cytochrome P450 Family 19 Subfamily A Member 1
  • 833
  • 23 Dec 2020
Topic Review
Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body.
  • 833
  • 24 Dec 2020
Topic Review
Complete LCAT Deficiency
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.
  • 833
  • 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.
  • 833
  • 24 Dec 2020
Topic Review
X-linked Dilated Cardiomyopathy
X-linked dilated cardiomyopathy is a form of heart disease.
  • 833
  • 24 Dec 2020
Topic Review
Familial Hyperaldosteronism
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
  • 833
  • 25 Dec 2020
Topic Review
PHKB Gene
phosphorylase kinase regulatory subunit beta
  • 833
  • 25 Dec 2020
Topic Review
Glaucoma Heritability
Glaucoma, a leading cause of irreversible blindness globally, is a degenerative optic neuropathy characterized by progressive visual field defects corresponding to retinal ganglion cell and retinal nerve fiber layer (RNFL) degeneration.
  • 833
  • 06 Aug 2021
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