What is Glass syndrome?
Glass, or SATB2-associated syndrome, is a genetic condition that presents with varying degrees of intellectual disability.
It is a recently described syndrome, characterized by absent or limited speech, craniofacial abnormalities specifically affecting the palate and teeth, as well as behavioral issues.
This syndrome is also known as:
Chromosome 2q32-q33 Deletion Syndrome; Chromosome 2q33.1-Microdeletion; SATB2-associated syndrome
What gene change causes Glass syndrome?
Mutations and deletions in the SATB2 gene on chromosome 2 are known to cause the syndrome. The condition is not inherited, but symptoms can vary according to the extent of the deletions.
Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
What are the main symptoms of Glass syndrome?
The main symptoms of Glass syndrome include intellectual disability and limited to zero speech development. Behavioral problems, specifically hyperactivity and aggressive tendencies, characterize the syndrome.
Individuals with the syndrome may also experience delays in the development of their motor skills. A happy and over-friendly personality is characteristic of individuals with the condition.
Physical conditions of the syndrome include craniofacial anomalies, and dental abnormalities including extra or missing teeth, and abnormally sized or shaped teeth.
Some individuals present with a cleft palate or high arch in the mouth as well as prominent forehead, low-set ears and a long philtrum.
Possible clinical traits/features:
Sparse hair, Preaxial foot polydactyly, Talipes, Talipes equinovarus, Reduced number of teeth, Camptodactyly, Abnormal hair quantity, Midface retrusion, Happy demeanor, Strabismus, Frontal bossing, Sleep disturbance, Tibial deviation of toes, Microcephaly, Aggressive behavior, Nail dysplasia, Arachnodactyly, Broad-based gait, Bulbous nose, Convex nasal ridge, Autism, Attention deficit hyperactivity disorder, Cleft palate, Abnormality of calvarial morphology, Abnormality of the voice, Abnormality of thumb phalanx, Abnormal testis morphology, Downslanted palpebral fissures, Conical tooth, Clinodactyly of the 5th finger, Facial asymmetry, Smooth philtrum, Fine hair, Malar flattening, Dental crowding, Delayed speech and language development, Short stature, High palate, High forehead, Prominent nasal bridge, Hyperactivity, Cognitive impairment, Muscular hypotonia, Intellectual disability, Inguinal hernia, Abnormality of dental morphology, Long face, Long nose, Low-set, posteriorly rotated ears, Long philtrum.
How is it diagnosed?
To find out if someone has a diagnosis of Glass syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
