In-depth insights into various childhood syndromes and disorders.
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This rare disease is a brain abnormality in which the brain fails to divide into the right and left hemispheres, as it should. There are four types of the syndrome, identified by the severity of the abnormality. The more severe the brain abnormality, generally the more severe the unique facial features and symptoms will be.
This rare disease is a genetic syndrome that occurs in 1 in every 100,000 live births. Symptoms of the syndrome may vary widely, even amongst family members with the same diagnosis. But common features include abnormalities in the upper limb bones, congenital heart defects (over 75% of patients diagnosed with this syndrome will also be diagnosed with a congenital heart defect) and/or coartic conduction defect which affects how muscle contractions in the heart are managed. This syndrome is also known as: Atriodigital Dysplasia Heart-hand Syndrome Hos1 Upper limb – cardiovascular syndrome – type – 1
This rare disease is a fatal genetic condition named for the doctors who first identified it, in 1886 and 1897 respectively. The syndrome triggers accelerated ageing in those affected. Heart disease is also a serious and common complication of the rare disease. Syndrome Synonyms: HGPS Hutchinson-Gilford syndrome Progeria Progeria Syndrome, Childhood-onset, With Osteolysis; Pscoo
Once known as Job syndrome, this rare disease can affect multiple systems and parts of the body, but mainly affects the immune system. This triggers recurrent infections in affected individuals. Inflammation and pneumonia being the most common medical conditions triggered by a compromised immune system. Frequent infections can have an impact on other parts and systems of the body too, triggering other health conditions. To date it is believed to occur in less than 1 million people globally, making it very rare. This syndrome is also known as: Buckley syndrome Hies, Autosomal Dominant Hyper IgE syndrome Hyper-ige Syndrome, Autosomal Dominant Job Syndrome
Hyperphosphatasia with Mental Retardation syndrome is characterized by increased levels of the enzyme alkaline phosphatase in the blood. Known as hyper phosphatase, it causes no known health issues, but is often the first indication an individual has the syndrome. The syndrome is characterized by intellectual disability, delayed psychomotor development, absent or very limited speech, and distinct facial features. Syndrome Synonyms: Mabry Syndrome
Also known as Sanjad-Sakati syndrome, this rare genetic condition has been found mainly amongst children of parents of Arab descent or ethnicity. These parents are usually related to each other. This makes it extremely rare. This syndrome is also known as: HRD Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay Sanjad-sakati Syndrome
Congenital Hypothyroidism refers to hypothyroidism that is present at birth. This means that the thyroid gland does not function in part, or at all. The thyroid, generates the hormones that contain iodine and which help to regulate growth and brain development, as well as the metabolism of the body. Congenital hypothyroidism affects the amount of levels of these hormones in an affected individual which in turn can impact on different parts of their body. The non goitrous label of the syndrome refers to those cases where the thyroid is partially or fully missing as opposed to enlarged. If left untreated the condition can cause delayed growth and intellectual disability. As a result testing for congenital hypothyroidism is standard in newborn screening and tests across the US. The condition affects 1 in every 2-4,000 newborns in the US. For reasons that are as yet unknown it has been found to affect more than twice as many female newborns as male.
This rare disease a neurodevelopmental disorder that is usually identified at birth or during infancy. The syndrome does not affect the development of the structure of the brain but individuals present with extreme global developmental delay, limited or no speech, and limited or no ability to walk independently.
This rare disease is a neurodevelopmental delay disorder that presents either at birth or during infancy. The main symptoms of the syndrome include delayed development, limited speech development, and usually an inability to walk unaided. This syndrome is also known as: IHPRF3