Van Bogaert-Hozay syndrome
A rare disorder characterized by destruction of ends of finger bones, mental retardation , skin wasting and eye and facial abnormalities.
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.
A rare genetic disorder characterized by underdeveloped genitals, obesity, mental retardation and skeletal abnormalities.
An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia.
A rare condition which is characterised by an aneurysm resulting from a intracranial vascular malformation.
An inherited syndrome of cardiac defects and craniofacial anomalies.
A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
A condition which is characterised by the incompetence of the velopharyngeal to close due to any cause.
A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms.
A syndrome characterised by the occurrence of cardiac arrhythmia, perodactyly, and Robin sequence.
A condition which is inheritable and causes any syndrome that is characterised by ECG signs of preexcitation.
A condition characterised by fibrillary contractions of the ventricles.