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.
A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes. The membranous portion, which is close to the atrioventricular node, is most commonly affected in adults and older children
A rare birth disorder where the right atrium is connected to the left ventricle and vice versa. The position of the heart ventricles is also inverted which allows normal blood oxygenation. Symptoms generally only occur later in life or if other heart defects are present which is usually the case.
A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities.
A condition which is characterised by skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
Verloes Gillerot Fryns syndrome: A syndrome characterised by multiple congenital abnormalities and mental retardation.
Verloes Van Maldergem Marneffe syndrome: A condition that is characterised by dwarfing skeletal dysplasia
Verloove Vanhorick Brubakk syndrome: A syndrome that is characterised by the occurrence of cleft limbs and heart malformations.
Vernal keratoconjunctivitis is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal" and summer but often reoccur in the winter. The condition usually subsides at the onset of puberty.
Verrucous nevus: A condition characterised by the occurrence of one or more pigmented lesions on the skin.
Verrucous nevus acanthokeratolytic: A condition characterised by the occurrence of one or more pigmented lesions on the skin.
Vertebral body fusion (medical condition): A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
Vertebral fusion posterior lumbosacral blepharoptosis (medical condition): A condition described as the congenital vertebral fusion of the posterior lumbosacrum.
Vertical talus, congenital (medical condition): A congenital condition that is characterised by a vertical talus resulting in a rigid flatfoot.
Vestibulocochlear dysfunction progressive familial: A condition which is characterised by vestibulocochlear dysfunction that occurs in a familial pattern.