In-depth insights into various childhood syndromes and disorders.
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Also known as Edwards syndrome, it is a rare chromosomal syndrome that presents with anomalies and symptoms that affect many parts of the body. Due to the severity of symptoms, many infants with the condition die before birth or in the first month of life. The 5-10% of children who survive the first year have […]
Turner syndrome affects only females. 1 in every 2,000 females born is diagnosed with the syndrome. This rare disease is characterized by short stature, heart defects, and a failure of the reproductive organs, specifically the ovaries to develop. In some instances, the syndrome is not diagnosed until puberty when these symptoms become apparent. The syndrome […]
Urofacial is a very rare genetic syndrome. The two main features of this syndrome are what is referred to as an unusual facial expression and uropathy-which is a disorder of the urinary tract. It is also sometimes referred to as Ochoa syndrome. More than 150 cases of the syndrome have currently been recognized. The majority […]
Van Den Ende-Gupta syndrome is a rare genetic syndrome, present at birth, and associated with unique facial features and skeletal anomalies. There have been 40 cases of the syndrome reported worldwide so far. Little is still known about how the condition progresses in affected individuals with age. This syndrome is also known as:Blepharophimosis, Arachnodactyly, and […]
Waardenburg is a group of rare genetic disorders that occurs in around 1 in every 40,000 births. The syndrome is made up of four genetic disorders, named Type 1-4. Type 1 and 2 are the most common, while type 3 usually causes the most severe symptoms. Auditory and pigmentary (relating to the skin) abnormalities are […]
Warburg Micro syndrome is a rare neurodevelopment syndrome that affects mainly the eyes and brain development. Issues with vision and intellectual disability are the main symptoms of the syndrome as a result. There are currently less than 100 cases recorded of the syndrome worldwide, making it extremely rare. This syndrome is also known as:Micro Syndrome; […]
Weaver syndrome is characterized by excessive physical growth in an individual, this rapid osseous growth usually starts prenatally. Males have been found to be three times more likely to be affected by the syndrome than females. Syndrome Synonyms:Weaver-Smith Syndrome; Wss It is caused by mutations in the EZH2 gene, and though most mutations are are […]
It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene. The main emerging symptoms of the syndrome include developmental delay, and in some cases, individuals also receive […]
White-Sutton syndrome is a rare genetic syndrome that often presents with autism features that affect an individual’s social skills, behavior, and ability to communicate. Delayed development and intellectual disability also characterize the syndrome. It is also known as Mental Retardation Autosomal Dominant 37 syndrome. Changes in the POGZ gene are responsible for causing the syndrome. […]