VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R), and limb abnormalities (L). People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.
This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
A rare syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
Neurology A heterogeneous group of conditions characterized by spinal cord degeneration; VM occurs in up to 20% of AIDS Pts; it is most extensive in the lateral columns of the middle and lower thoracic segments. Cf Spongy degeneration.
A condition characterised by the absence of a vagina at birth.
Cancer of the vagina, is a rare kind of cancer in women. In vaginal cancer, cancer (malignant) cells are found in the tissues of the vagina. The vagina is the passageway through which fluid passes out of the body during menstrual periods and through which a woman has babies. The vagina is also called the "birth canal." The vagina connects the cervix (the opening of the womb or uterus) and the vulva (the folds of skin around the opening to the vagina).
A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems.
A very rare metabolic disorder where a deficiency of the enzyme valine transaminase results in increased blood and urine levels of the amino acid called valine.
A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures.
A syndrome which is characterised by vesicles, celosomia, short neck, microcornea, and dextrocardia.
A rare disorder characterized by destruction of ends of finger bones, mental retardation , skin wasting and eye and facial abnormalities.
Van Buchem disease type 2 (VBCH2) phenotype can be caused by mutation in the LRP5 gene. Van Buchem disease, type 2 is an autosomal dominant, high bone density disorder. The autosomal dominant inheritance of VB type 2 is clearly in contrast with the diagnosis of Van Buchem disease.
A syndrome which is characterised by mental deficiency, choroideremia, acrokeratosis, verruciformis, anhidrosis, skeletal deformity.
A syndrome which is characterised by multiple congenital abnormalities.
Van der Woude syndrome is a condition that affects the development of the face. It is characterised by multiple congenital abnormalities.
A syndrome which is characterised by multiple birth defects
Van Maldergem Wetzburger Verloes syndrome is characterised by abnormalities of the cerebrum, face, and articular joints.
A syndrome which is characterised by multiple congenital abnormalities.
A condition which is characterised by bacteremia caused by an enterococci that is resistant to vancomycin.
A syndrome characterised by deformities of the oral-facial-digital areas.
The bovine spongiform encephalopathy affects cattle but the variant form can infect humans. Human infection can occur by consuming infected cattle products, especially the brain and other central nervous system tissues.
The infection of a mother with the varicella virus whilst she is pregnant.
A highly contagious disease caused by herpes virus 3.
A rare metabolic disorder characterized by a deficiency of a certain enzyme which results in a build-up in the body of porphyrins or their precursors. This form of hepatic porphyria causes the sufferer to have acute attacks as well as skin sensitivity.
A condition which is characterised by malposition of the great vessels.
This is a broad and heterogeneous group of diseases characterized by inflammation and damage to the blood vessels, thought to be brought on by an autoimmune response. Any type, size, and location of blood vessel may be involved. Vasculitis may occur alone or in combination with other diseases, and may be confined to one organ or involve several organ systems.
Inflammation and damage of the blood vessel walls that also affects the skin. The condition may occur on its own or as a result of an underlying condition.
A condition which is characterised by normal renal filtration and solute excretion however there is a persistent hypotonic urine.