In-depth insights into various childhood syndromes and disorders.
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SHORT syndrome is a rare multi-system genetic condition, meaning it affects multiple systems and organs of the body. There are currently less than 50 cases of this rare disease recorded worldwide, to date. The syndrome is named for its main symptoms: short stature, ocular depression, Rieger anomaly and teething delay. Syndrome Synonyms:Lipodystrophy, Partial, with Rieger […]
Shprintzen-Goldberg Craniosynostosis syndrome very rare genetic condition that affects the connective tissue of the body. The main syndromes concern the skeletal, facial, and cardiovascular parts of the body. There are, to date, less than 50 patients worldwide diagnosed with the condition. Syndrome Synonyms:Craniosynostosis with Arachnodactyly and Abdominal Hernias; Marfanoid Craniosynostosis Syndrome; Marfanoid Disorder With Craniosynostosis, […]
Sifrim-Hitz-Weiss syndrome is a rare congenital genetic syndrome that presents with intellectual disability, developmental delay, and unique facial features. This syndrome is also known as:Sifrim-Hitz-Weiss Multiple Congenital Anomalies-Mental Retardation syndrome Changes in the CHD4 gene are responsible for the syndrome. The condition is not inherited but the result of de novo, or new gene mutations […]
Silver-Russell syndrome is a rare genetic disorder characterized by limited growth both before and after birth known as intrauterine growth restriction. Babies born with the condition have a low weight at birth. It is often referred to as a congenital growth disorder. Symptoms vary from mild to severe depending on the genetic mutations involved in […]
Simpson-Golabi-Behmel syndrome, Type 1 is a rare genetic syndrome that affects multiple parts of the body. The syndrome occurs mainly in males due to its mode of inheritance. The syndrome is an overgrowth syndrome, meaning it triggers excessive growth both before birth and after. This syndrome is also known as: SGBS; Dysplasia Gigantism Syndrome, X-Linked; […]
It is a rare neurodevelopment syndrome. Intellectual disability and developmental delay are characteristic of the syndrome. Seizures and distinct facial features are also associated with the syndrome. It is also referred to as WDR26-related intellectual disability. This syndrome is also known as:Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features Mutations in the WDR26 […]
Smith-Lemli-Opitz syndrome is a variable genetic disorder characterized by slow growth both before and after birth. It is thought to occur in anywhere from 1 in 20-60,000 live births. This rare disease is also known as multiple congenital anomaly disorder, presenting with intellectual disability. The syndrome is most common in Caucasians of Central European descent. […]
Smith-Magenis syndrome is a genetic developmental disorder. Individuals usually display affectionate personalities but may also present with behavioral issues and repetitive behaviors. Delayed speech and language development, as well as issues with sleep are characteristic of the syndrome as well. This rare disease affects multiple parts of the body and is characterized by distinct facial […]
Sotos syndrome is a genetic disorder characterized by excessive growth in individuals with the syndrome. This excessive growth usually begins in infancy (but prenatal cases have been documented) and lasts through adolescence. It is often accompanied by advanced bone age. The syndrome occurs in 1 in 14,000 live births and affects males and females similarly. […]