Paula and Bobby
Parents of Lillie
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 changes cause 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, and specifically hyperactivity and aggressive tendencies, characterize the syndrome.
Individuals with the syndrome may also experience delay 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, 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 does someone get tested for Glass syndrome?
The initial testing for Glass syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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