Items tagged “syndromes”

22 results found
Case

Kartagener syndrome

  Diagnosis almost certain
Hani Makky Al Salam
Published 12 Oct 2021
59% complete
X-ray CT
Case

Joubert syndrome

  Diagnosis almost certain
Hani Makky Al Salam
Published 11 Apr 2010
77% complete
MRI
Case

Mermaid syndrome (sirenomelia)

  Diagnosis certain
Hani Makky Al Salam
Published 12 Apr 2010
85% complete
X-ray
Case

Crouzon syndrome

  Diagnosis almost certain
Hani Makky Al Salam
Published 19 May 2010
71% complete
CT
Article

Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4. Clinical presentation large head, with large fontanelles with delayed closure broad mandible ...
Case

Poland syndrome

  Diagnosis certain
Alexandra Stanislavsky
Published 22 Aug 2010
64% complete
CT X-ray
Case

Goldenhar syndrome

  Diagnosis probable
Hani Makky Al Salam
Published 20 Jun 2011
68% complete
CT X-ray
Article

Fibular hemimelia

Fibular hemimelia is a congenital lower limb anomaly characterized by partial or complete absence of the fibula and includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia 1. Epidemiology Although rare in occurrence, it is the most common congenital absence of long...
Case

Acute phase of hemiconvulsion-hemiplegia epilepsy syndrome

  Diagnosis certain
René Pfleger
Published 16 May 2014
95% complete
CT MRI
Article

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Clinical present...
Article

Zimmerman-Laband syndrome

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.  Pathology The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosa...
Article

Biotinidase deficiency

Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of biotin (vitamin B7), resulting in low levels of bioavailable biotin, and clinical biotin deficiency. Epidemiology Profound deficiency (<10% of normal level) is estima...
Article

≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome (trisomy 21) campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion...
Article

Kyphomelic dysplasias

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias. Entities included in a differential for the class are: congenital bowing of the long bones cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type) ...
Article

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with wide variability in its manifestations. It is thought to have an autosomal recessive inheritance. Clinical presentation There is wide variability in the clinical presentation, but common features are: low birth weight hypo...
Article

Athlete heart syndrome

Athlete heart syndrome refers to adaptations in both cardiac structure and function seen in people engaged in high-performance and endurance physical exercise. Epidemiology The prevalence of the condition has increased due to the increased popularity of recreational exercise, approx 3.6/100,00...
Case

Fibular hemimelia

  Diagnosis almost certain
Ceyhun Hacı
Published 10 May 2019
75% complete
X-ray
Article

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities. Epidemiology It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals. Males and females are equally affected. Clinical presentation The spe...
Article

Perlman syndrome

Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4. Clinical presentation Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramni...
Article

Orbital apex syndrome

Orbital apex syndrome, also known as Jacod syndrome, is a constellation of clinical findings, presenting as a result of several potential pathologies that compress or otherwise affect structures passing through the orbital apex. Clinical presentation Presentation is according to the structures...

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