Conditions

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SYNGAP1 Gene Mutation

These symptoms, ranging from mild to severe, can include weak muscle tone (hypotonia) and delayed development of speech and motor skills. Seizures (epilepsy), as well as hyperactivity and autism, are also common. These symptoms result from mutations in the SYNGAP1 gene. Located in the brain, the...

Severe Behavior Disorders

Treatment of Severe Behavior Disorders: Individuals with intellectual and developmental disabilities, including autism, are at increased risk for engaging in problem behavior such as self-injury, aggression, and property destruction. When these behaviors are intense and frequent, they can...

Sickle Cell Disease (SCD)

Sickle cell disease is an autosomal recessive hemoglobinopathy that affects red blood cells, causing them to adopt a sickle or crescent shaped formation when under duress. This disease is caused by a single mutation to the hemoglobin beta (HBB) gene. When people have one HBB gene mutation, they have...

Skeletal Disorders

Examples, Subsets and Synonyms for Skeletal Disorders: Osteogenesis Imperfecta Osteoporosis Limb Length discrepancy

Sleep Disorders

Sleep is an important activity of the developing brain. Although long under-appreciated, it is now known that sleep problems can cause difficulties with learning, concentrating, and regulating behavior. In addition to health problems, sleep problems are now being recognized as a common problem with...

Smith-Lemli-Opitz Syndrome

Smith-Lemli-Optiz Syndrome (SLOS) is a genetic disorder that affects the development of children both before and after birth. The syndrome was first described in 1964 in three boys with poor growth, developmental delay and a common pattern of congenital malformations including cleft palate, genital...

Spina Bifida

At Kennedy Krieger, the Philip A. Keelty Center for Spina Bifida and Related Conditions serves children and adults with spina bifida, myelomeningocele (meningomyelocele), or myelodysplasia, as well as other related conditions of the brain and spine such as hydrocephalus, Arnold-Chiari malformation...

Spinal Cord Injury and Paralysis

Visit the International Center for Spinal Cord Injury Website Spinal cord injury (SCI) occurs when a traumatic event results in damage to cells within the spinal cord or severs the nerve tracts that relay signals up and down the spinal cord. The most common types of SCI include contusion (bruising...

Sturge-Weber Syndrome (SWS)

Some people have an isolated intracranial variant, meaning abnormal brain blood vessels with no skin or eye symptoms. SWS does NOT generally run in families. It can affect one side (in about 85 percent) or both sides of the body (in about 15 percent). The presence of a port-wine stain involving the...