In-depth insights into various childhood syndromes and disorders.
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
Schilbach-Rott is a rare genetic syndrome that presents with distinct facial features, including facial asymmetry and widely spaced eyes. The syndrome is also characterized by anomalies relating to a cleft palate. The syndrome affects multiple parts of the body- including the musculoskeletal and nervous systems. This syndrome is also known as:Blepharofacioskeletal Syndrome; BRSS; Cleft Palate, […]
Schinzel-Giedion Midface Retraction syndrome is a rare congenital genetic condition. This neurodegenerative syndrome has a low life expectancy for individuals affected, and very few affected survive childhood. The most common cause of death is from respiratory or breathing problems. The syndrome is caused by new mutations in the SETBP1 gene. Research is still ongoing into […]
Schwartz-Jampel is a rare genetic syndrome that affects mainly the skeletal muscles, with symptoms that are usually first identified in late infancy or early childhood. There are 85 cases reported of the syndrome so far. This syndrome is also known as:Chondrodystrophic Myotonia; Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities; Schwartz-Jampel Syndrome; SJS; Schwartz-Jampel-Aberfeld […]
Sclerosteosis is a rare genetic syndrome. Most cases of the syndrome have been identified amongst the Afrikaaner population in South Africa, but cases have also been reported in the USA and Brazil. The syndrome leads to bone overgrowth which in turn causes several health issues and symptoms. Sclerosteosis is the most severe form of the […]
Seckel syndrome is a rare inherited syndrome, named for the pediatrician, Dr. Seckel, who published the first clinical cases of the syndrome in 1960. The main characteristics of the syndrome include intrauterine growth retardation (before birth), dwarfism, intellectual disability, microcephaly (a very small head), and a ‘bird-like’ facial appearance. Syndrome Synonyms:Bird-headed dwarfism; Nanocephalic dwarfism; Seckel-Type […]
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 […]