SATB2-Associated Syndrome (SAS) is a rare genetic disorder, caused by alterations to the SATB2 gene. This gene plays an important role in brain development, bone formation and speech function.
SAS symptoms can vary widely from person to person, and almost no individual will exhibit all symptoms. Although people with SAS have intellectual disabilities and speech problems, most of them are happy and healthy. It is important to realise that persons with SAS are unique and that they are more than their syndrome. All have their own qualities, like being funny, sensitive, friendly, curious or cheeky. The following information on health issues does not define a person with SAS, but can be helpful to recognise, prevent and manage symptoms better.
The information below is largely based on research on children, adolescents and young adults. There is limited information published on ageing in SAS, as fewer individuals in the age range above 30+ years have had genetic diagnostics. Based on current knowledge, the syndrome is generally not associated with a shorter life expectancy.
Most common symptoms
- Developmental delay and intellectual disability
All children and adults experience mild to severe delays in learning and global development. [read more] - Speech and language deficits
Most individuals with SAS have absent or severely limited and delayed speech. Receptive language skills (the ability to understand language) are in range with the cognitive abilities. [read more] - Dental symptoms
Common features include delayed teeth eruption, large, protruding front teeth, dental crowding and missing teeth. [read more] - Behavioral challenges
Although people with SAS are often described as friendly, some can display aggressive behaviors, self-injury or features of autism spectrum disorder. [read more]
Common symptoms
- Cleft palate
Half of all SAS children are born with a cleft palate, which usually is discovered soon after birth. This can lead to feeding difficulties. [read more] - Feeding difficulties
May include feeding issues in babies, problems with chewing, overstuffing and swallowing food. [read more] - Low weight
About 1 in 5 SAS children have low weight and issues gaining weight. SAS-specific growth curves have been published. [read more] - Drooling
Excessive drooling is common in young children with SAS. Reduced muscle tone, enlarged adenoids, open-mouth breathing and difficult teething can each play a role. Many parents use customised bibs to prevent wet clothes and skin problems. The symptom often improves after the age of 4-6 years. - Low bone density
Low bone density can occur from an early age and may cause bones to fracture easily. This can be assessed with a DEXA scan and is treated with medication to improve bone density. [read more] - Epilepsy
Some individuals have epileptic seizures, including hard-to-spot types during sleep. These usually start before the age of 7. Seizures can be treated with anticonvulsant medications. [read more] - Sleep problems
Many children with SAS experience severe sleep issues, which also affects their families. Both sleep initiation and sleep maintenance can be affected. [read more] - Facial features
The facial features of SAS are subtle and far from always present. In the (western) literature they are described as: micrognathia (small lower jaw), deep-set eyes, long smooth philtrum, thin upper lip and a prominent chin.
Symptoms that are common in people with intellectual disability
- Constipation
Constipation (hard or infrequent stools) is very common and can be severe. It can lead to physical discomfort and behavioural problems. When basic steps like sufficient intake of dietary fibers and fluids and enough physical activity are not enough, the use of laxatives (f.i. macrogol) can be necessary. - Gastro-esophageal reflux
Acid reflux (heartburn) is very common, especially in people with severe or profound ID. It may cause pain, irritation of the esophagus, anemia and affect behaviour, but can be hard to detect. Treatment is usually with antacid medications, though long-term use may negatively affect bone health which is relevant for SAS. - Vision and hearing problems
Although there may be a higher percentage of strabismus (crossed eyes) and refractive errors, vision and hearing impairment are not specifically associated with SAS. However, they are more common in people with ID in general and can easily be overlooked. It is recommended to have vision and hearing checked according to national youth health care programs. To do this properly, specific expertise may be needed, for instance a specialised ophthalmologist or an audiology clinic.
Other resources:
SATB2 Gene Foundation: SAS Information Sheets for parents and clinicians
GeneReviews: SATB2-Associated Syndrome - GeneReviews®
Unique: SATB2 syndrome
Orphanet: SATB2-associated syndrome
The content provided by this website is for educational, communication and information purposes only and is not intended to replace or constitute medical advice or treatments. Always consult with your licensed healthcare provider.