In-depth insights into various childhood syndromes and disorders.
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Catel-Manzke syndrome is a rare genetic condition that was first identified in 1961. There are around 33 cases of the syndrome recorded globally. The syndrome presents with unique facial features, anomalies of the digits (the fingers specifically), and features of the Pierre Robin sequence (cleft lip, small jaw, tongue placed further back in the mouth). […]
Cerebellar Ataxia, Non-Progressive, with Mental Retardation is a rare genetic condition that affects the cerebellum (the part of the brain responsible for the control of fine voluntary movements) making it is a neurodevelopmental condition. The syndrome also presents with developmental delay and intellectual disability. Also known as: Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities; […]
Cerebrocostomandibular syndrome is a very rare genetic syndrome. There are around 80 cases recorded. The syndrome mainly affects the development of the ribs and jaw of affected individuals. However, it also presents with a wide range of symptoms that affect many different parts and systems of the body. This syndrome is also known as:CCMS Rib […]
Cerebrooculofacioskeletal syndrome is a rare congenital, degenerative genetic condition. It affects the brain, spinal cord and eyes of affected individuals. Individuals with the syndrome have a life expectancy of no more than 5 years. Syndrome Synonyms:COFS syndrome; Pena-Shokeir syndrome Type II Current research has identified mutations in the ERCC1, ERCC2, ERCC5 and ERCC6 genes as […]
Char syndrome is a rare genetic condition that presents with 3 identifying features. These are distinct facial features, a heart condition (patent ductus arteriosus), and hand abnormalities. This syndrome is also known as:Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits Mutations to the TFAP2B gene cause Char syndrome. It is inherited in an […]
CHARGE syndrome is a genetic disorder that usually presents with a variety of birth defects. The disorder is rare and not always easy to diagnose as symptoms may vary widely between individuals. Clinical criteria were established in 2005, the absence of a specific gene, responsible for the syndrome, for many years complicated the diagnosis. CHARGE […]
Cherubism is a rare genetic condition diagnosed in around 300 individuals worldwide. Individuals with cherubism have very distinct facial features. The syndrome is believed to be two times more common in males than females. Syndrome Synonyms:CRBM Changes in the SH3BP2 gene are responsible for the syndrome. The syndrome is inherited in an autosomal dominant pattern. […]
Chromosome 16p13.3 Duplication syndrome is a rare genetic syndrome caused by the duplication of a gene located on a specific part of chromosome 16. It is a newly identified condition, first identified in 2010. The syndrome is the result of a duplication of the gene CREBBP located on chromosome 16. The larger the duplication, generally […]
Chromosome 1p36 Deletion was identified in the 1990’s, although cases were recorded as early as the 1980’s. It is a rare chromosomal deletion syndrome. Severe intellectual disability is one of the main symptoms of the syndrome. Affected individuals also generally have limited to absent speech development and ability. Behavioral issues are also a common feature […]