Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-50,...
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 tumors (greatly increased risk)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by:
fetal hydrocephalus: almost always present
neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
Waterhouse-Friderichsen syndrome (also known as purpura fulminans 9 or hemorrhagic adrenalitis 10) is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicaemia.
Waterhouse-Friderichsen syndrome is due to septicaemia and comm...
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 cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve 1-3.
ipsilateral CN III palsy
contralateral hemiplegia or hemiparesis
It is usually caused by an ischemic stroke, typically ...
Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to a specific ECG abnormality in the precordial T-wave segment. It can be associated with a critical stenosis of the proximal left anterior descending artery.
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 characterized by
scleroderma-like skin changes such ...
Wernicke aphasia, also known as receptive aphasia or fluent aphasia, is the inability to grasp the meaning of spoken or written words and sentences while producing connected speech is not greatly affected.
Receptive aphasia is usually caused by injury to the dominant posterior temporal lobe (We...
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 mammillary bodies, dorsomedial thalami, ...
Whipple triad is the clinical presentation of pancreatic insulinoma and consists of:
fasting hypoglycemia (<50 mg/dL)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of IV glucose
History and etymology
The triad and also the Whipple procedure were both named a...
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 syndrome: an ocular motility disturbance due to fibrosis of the extraocu...
Williams syndrome (WS) is characterized 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 characterized 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, diarrhea and vomiting. Abdominal dis...
Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal hemorrhage 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 comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1.
Patients are typically diagnosed during the 3rd or 4th decade of life and often present with perineal pain, re...
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...