Items tagged “syndromes”
12 results found
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
...
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...
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...
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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