Items tagged “syndrome”

274 results found
Article

COACH syndrome

The acronym COACH describes a syndrome associated with: C - cerebellar vermis defect (Joubert syndrome) O - oligophrenia A - ataxia C - coloboma H - hepatic fibrosis Epidemiology There only as little as 11 cases having been reported in the English medical literature. Associations The as...
Article

Feingold syndrome

Feingold syndrome is characterized by the combination of: microcephaly digital abnormalities alimentary tract atresias especially esophageal atresia
Article

18q-deletion syndrome

18q-deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Case

18q syndrome

 Diagnosis almost certain
Assoc Prof Frank Gaillard
Published 24 Jan 2010
62% complete
MRI
Article

Hutchinson syndrome

Hutchinson syndrome is a seldom-used term to denote a syndromic presentation of children with skeletal metastases from neuroblastoma. Terminology Unfortunately, there is a lack of consensus in the definition with two descriptions most commonly encountered in the literature: limping and irrita...
Case

Fitz-Hugh-Curtis syndrome

 Diagnosis possible
Dr Ruslan Asadov
Published 27 Feb 2010
50% complete
CT
Article

Poland-Möbius syndrome

Poland-Möbius syndrome, is the combination of Möbius syndrome and Poland syndrome, which although very rare, has been well described 1.  History and etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3
Case

Dyke-Davidoff-Masson syndrome

 Diagnosis almost certain
Dr Hani Makky Al Salam
Published 11 Mar 2010
59% complete
MRI
Article

Young syndrome

Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however, the underlying pathogenesis is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...
Article

Williams syndrome

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate intellectual disability  supravalvular aortic stenosis ...
Case

Kartagener syndrome

 Diagnosis certain
Dr Hani Makky Al Salam
Published 18 Mar 2010
87% complete
CTX-ray
Article

Lutembacher syndrome

Lutembacher syndrome refers to the association of an atrial septal defect (ASD) with mitral stenosis.  Both the defects can be either congenital or acquired. History and etymology It is named after Rene Lutembacher 4.
Case

Syndrome of multiple intracranial schwannomas, meningiomas and ependymomas (MISME)

 Diagnosis almost certain
Dr Paresh K Desai
Published 24 Mar 2010
62% complete
MRI
Article

Lady Windermere syndrome

Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...
Case

Sturge-Weber syndrome

Sturge-Weber synd...
 Diagnosis probable
Dr Hani Makky Al Salam
Published 17 Apr 2010
45% complete
MRI
Article

Zellweger syndrome

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, liver and kidneys.  Epidemiology The condition typically presents in neonates with poor feeding and/or seizures. ...
Article

Caudal regression syndrome

Caudal regression syndrome represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The vast m...
Article

Collet-Sicard syndrome

Collet-Sicard syndrome, also known as condylar jugular syndrome, is a constellation of cranial nerve palsies due to neoplastic or non-neoplastic lesion at the jugular foramen 1,2. Clinical presentation Vernet syndrome, consisting of motor paralysis of glossopharyngeal nerve (CN IX) vagus ner...
Case

Apert syndrome or type I acrocephalosyndactyly

 Diagnosis certain
Dr Hani Makky Al Salam
Published 16 May 2010
71% complete
X-rayCT
Article

Metachondromatosis

Metachondromatosis refers to the rare combination of: multiple enchondromatosis (Ollier disease) and  osteochondromatosis (diaphyseal aclasis) In contrast to enchondromatosis alone, metachondromatosis carries an autosomal dominant inheritance.  Radiographic features Characterized by the pre...