van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae / pits with cleft lip and / or palate.
It is the one of the most common clefting syndromes in humans 1. VWS individuals have a high prevalence of hypodontia.
It carries anau...
The are numerous vascular syndromes that can occur in the body. There include
Syndromes principally involving the vascular system
coeliac artery compression syndrome
hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
hypothenar hammer syndrome
VATER (equivalent to VACTERL) is the non-random constellation of a number of congenital anomalies.
V : vertebral anomalies
A : anal atresia
TE : tracheo-oesophageal fistulas
R : radial ray hypoplasia, polydactyly and renal agenesis
The prevalence of at least 3/5 anomalies oc...
Vernet syndrome (also known as the jugular foramen syndrome) is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion such as a glomus jugulare tumour or schwannoma. It consists of motor paralysis of:
glossopharyngeal nerve (CN IX)
vagus nerve (CN X)
Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterised by granulomatous panuveitis with exudative retinal detachments that is often associated with neurologic and cutaneous manifestations.
Vogt-Koyanagi-Harada usually affected those of Asian, Middle Eastern, Asian I...
Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-5...
Waardenburg syndrome is a rare congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafness.
The WAGR syndrome stands for:
Wilms tumours (greatly increased risk)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to WT1 gene.
Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by:
fetal hydrocephalus: almost always present
neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
Waterhouse-Friderichsen syndrome is characterised by adrenal insufficiency that results from atraumatic adrenal haemorrhage in consequence of septicaemia.
Waterhouse-Friderichsen syndrome is due to septicaemia and common infective agents include 5:
meningococcus: traditionally desc...
Weaver syndrome (WS) is a rare congenital disorder.
increased birth weight: fetal macrosomia
accelerated osseous maturation: increased bone age
typical facial features
Weber syndrome is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve resulting in an ipsilateral CN III palsy and contralateral hemiplegia or hemiparesis 1-3.
Using imaging alone, it is difficult to distinguish Weber from Benedikt syndrome, unless clear involvement o...
Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome.
Werner syndrome is characterised by
scleroderma-like skin changes such ...
Wernicke encephalopathy, also referred as Wernicke-Korsakoff syndrome, is due to thiamine (vitamin B1) deficiency, and is typically seen in alcoholics.
On imaging, it is commonly seen on MRI as areas of symmetrical increased T2/FLAIR signal involving the mamillary bodies, dorsomedial thalami, t...
Whipple triad is the clinical presentation of pancreatic insulinomas and consists of:
fasting hypoglycemia (<50 mg/dl)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of IV glucose
History and etymology
As a good piece of trivia, one would suspect that Whipple...
Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of:
congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness.
Duane's retraction syndrome: an ocular motility disturbance due to fibrosis of...
Williams syndrome (WS) is characterised by some or all or the following features:
craniofacial dysmorphism (e.g. elfin facies)
short stature (50% of cases)
mild to moderate mental retardation
supravalvular aortic stenosis 2
pulmonary artery stenosis 3
Wilson Mikity syndrome (WMS) refers to chronic lung disease in premature infants, characterized by early development of cystic interstitial emphysema (PIE). This is now sometimes considered as part of the spectrum of bronchopulmonary dysplasia.
chronic pulmonary insufficiency of prema...
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterised by partial deletion of the p arm of chromosome 4 (4p16.3).
agenesis of the corpus callosum
cleft lip + / - palate...
Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.
Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhoea and vomiting. Abdominal di...
Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal haemorrhage occurs into the subcapsular and perirenal spaces 2.
Wunderlich syndrome is clinically characterized by Lenk's triad
acute flank pain
Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is currently classified as a craniofacial arteri...
X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are:
broad nasal bridge
cleft lip and/or palate
Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however the underlying pathogenesis yet to be fully elucidated. Obstructive azoopsermia at the level of the epididymis is thought to be the cause of infertility. The commonly refer...
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive.
severe neurologic impairment
diastasis of sutures
absent thumbs and distal phalanges of fingers
Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system (CNS), liver and kidneys.
The condition typically presents in neonates with poor feeding and/or seiz...
Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with high mutation rate and rare instances of germinal mosaic...
Zinner syndrome is a triad of Wolffian duct anomalies that include unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1.
Patients are typically diagnosed at 3rd or 4th decade of life and often present with perineal pain, recurren...
Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to a gastrinoma.
Diagnosis of ZES is often delayed by 5-7 years after the onset of symptoms 2.
Gastrinomas are usually multiple and typically located in the duodenum (more common) ...
The Zuelzer-Wilson syndrome (total colonic aganglionosis) is a subset of Hirschsprung disease, in which the whole colon is aganglionic. It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3. Multiple procedures have been devised to treat the condition, including proctocolectom...