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Genetic Conditions
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Genetic Conditions

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1.305 ARTICLES IN THIS TOPIC

Van der Woude syndrome

Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usuall
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Very long-chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats into energy, particularly during periods without food (fasting). There are three forms of VLCAD deficiency, and they are defi
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VEXAS syndrome

VEXAS syndrome is a disorder involving episodes of fever and abnormal inflammation. VEXAS is an acronym that stands for the technical terms of key descriptors of the condition. Normally, inflammation is an immune system response to injury or foreign
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Vibratory urticaria

Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected ar
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Vici syndrome

Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected. A characteristic
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Vitamin D-dependent rickets

Vitamin D-dependent rickets is a group of disorders that are characterized by soft, weak bones (rickets). In people with these conditions, the process by which minerals are deposited into developing bones (mineralization) is disrupted. The long bones
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Vitelliform macular dystrophy

Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dys
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Vitiligo

Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any
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Vohwinkel syndrome

Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmo
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Von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adu
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Von Willebrand disease

Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing foll
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Waardenburg syndrome

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing los
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