Virus associated hemophagocytic syndrome
A fulminant condition characterised by viral infection causing multiple organ infiltrates of haemophagocytic histiocytes.
A fulminant condition characterised by viral infection causing multiple organ infiltrates of haemophagocytic histiocytes.
A very rare form of muscle wasting disease involving the eye and gastrointestinal muscles.
The deposition of small papules composing of granulomas in organs of the body.
The abnormal position of the atriums of the heart.
A morbid condition of the embryo caused by the consumption of excess Vitamin A during pregnancy.
Vitamin D-resistant rickets is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Vitamin D-resistant rickets, or a subtype of Vitamin D-resistant rickets, affects less than 200,000 people in the US population.
A condition that is characterised by a number of symptoms including mental retardation, facial dysmorphism and uremia.
A condition characterised by the degeneration of the vitreous and retina of the eye
A form of hereditary fundus dystrophy.
A rare condition that is characterised by cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias , and sudden death
A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated
A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated.
A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition.
An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys.
Von Hippel–Lindau syndrome (VHL, Von hippel-Lindau disease) is a disease which results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, affer surgery, or having a tooth pulled. Affected women may have heavy menstrual bleeding. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury.
It is divided into three types. Type 1 is the mildest and most common, and type 3 is the most severe and rarest form. Type 2 (four subtypes) is intermediate in severity. Increased age, pregnancy, exercise, and stress may cause von Willebrand factor levels in the blood to rise, which can make bleeding symptoms less frequent. This disease is caused by a mutation in the VWF gene and can have different inheritance patterns. Treatment varies according to the severity of the disease and includes plasma-derived clotting factor concentrates and other medications.
A condition that is characterised by autosomal inheritance and is a disorder that is charaterised by prolonged bleeding time.
A condition that is characterised by autosomal inheritance and is a disorder that is charaterised by prolonged bleeding time.
A condition that is characterised by autosomal inheritance and is a disorder that is charaterised by prolonged bleeding time.
Vulvar cancer is a malignant, invasive growth in the vulva, or the outer portion of the female genitals. The disease accounts for only 0.6% of cancer diagnoses but 5% of gynecologic cancers in the United States. The labia majora are the most common site involved representing about 50% of all cases, followed by the labia minora. The clitoris and Bartholin glands may rarely be involved. Vulvar cancer is separate from vulvar intraepithelial neoplasia (VIN), a superficial lesion of the epithelium that has not invaded the basement membrane—or a pre-cancer. VIN may progress to carcinoma-in-situ and, eventually, squamous cell cancer.
According to the American Cancer Society, in 2014, there were about 4,850 new cases of vulvar cancer and 1,030 deaths from the disease. In the United States, five-year survival rates for vulvar cancer are around 70%.
The inflammation of the opening of the vagina
Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
Waardenburg syndrome or Waardenburg-Klein syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.
Type I Waardenburg syndrome is characterized by evidence of dystopia canthorum and the full symptomatology of the disease.
Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
Waardenburg syndrome type 2A: A hereditary, autosomal dominant disorder
Waardenburg syndrome type 2B: A hereditary, autosomal dominant disorder.
Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
Type IV Waardenburg syndrome (Shah-Waardenburg syndrome) is the association of Waardenburg syndrome with congenital aganglionic megacolon (Hirschsprung disease).4 Hirschsprung disease affects 1 neonate per 5 births.