Smith-Kingsmore syndrome (SKS)

Support Programs for Smith-Kingsmore syndrome (SKS)

Smith-Kingsmore syndrome (SKS)

The Smith-Kingsmore syndrome (SKS) is a rare, neurodevelopmental disorder caused by mutations in the MTOR gene. SKS affects the digestive, endocrine, metabolic, and nervous systems. Patients with SKS have a range of medical, intellectual, and behavioral disabilities resulting in different and variable clinical outcomes. Research shows people with SKS have intellectual disability, developmental delay, large brain size (megalencephaly), and seizures. The type of MTOR gene mutation of the patient affects the symptoms.

Smith-Kingsmore syndrome is characterized by unusual facial features. There is currently no cure, treatment is provided according to the present symptoms.

There are three types of genetic changes in MTOR at present:

The first group includes individuals with megalencephaly (brain overgrowth), intellectual disability, autism, and hypotonia.

The second group includes patients with diffuse brain overgrowth, polymicrogyria, and abnormal skin pigmentation.

There is also a third group of patients who suffer from focal changes in the brain (focal cortical dysplasia or hemimegalencephaly) that cause epilepsy at a young age.


The distribution and levels of MTOR genetic changes vary by cell type. SKS can manifest in different ways even if the same MTOR mutation is present.

smith-kingsmore-syndrome

Signs and Symptoms

SKS features vary, but may include:

BEHAVIORAL

  • Autism / autistic traits
  • Attention-deficit/hyperactivity disorder
  • Speech anomalies

NEUROLOGIC

  • Global developmental delays/intellectual disability
  • Macrocephaly / megalencephaly / other brain abnormalities
  • Low muscle tone (hypotonia)
  • Seizures
  • Hearing Impairment
  • Cortical visual impairment

DIGESTION / GASTROINTESTINAL

  • Digestive issues (abdominal pain, constipation)
  • Hyperphagia

smith-kingsmore-syndrome
smith-kingsmore-syndrome

PHYSICAL

  • Curly / wavy hair
  • Frontal bossing, prominent and long philtrum, flat nasal bridge, macrostomia, hypertelorism
  • Macrosomia at birth
  • Delayed bone age
  • Motor skill deficits

Causes

SKS is usually said to be an autosomal dominant disorder, meaning that one copy of the altered MTOR gene in each cell is enough to cause the condition.

Affected Populations

An affected person is 10 in every 10,000 with MTOR gene disorders.


smith-kingsmore-syndrome
smith-kingsmore-syndrome

What are the benefits of using ASP Health?

More than 13 million Americans missed taking their medications because they don't have enough money.

ASP Health offers an integrated suite of products and services that help providers improve operational efficiency, reduce costs and provide better patient outcomes. We collaborate with foundations and drug manufacturers to minimize the cost. ASP Health offers various programs that help people with low income, afford medications at low cost or no cost.

How can I contact ASP Health?

Call us at 405-283-3244, all your queries will be resolved in no time. You can select the appropriate service or program which best suits you.

We provide every update and solution to your queries. We are available at every step in your journey with ASP Health whether it is related to documentation or medication.