Genetics Home Reference :
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SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.
In people with SETBP1 disorder, problems with expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Speech development may be limited to a few words or no speech. Affected individuals often communicate using gestures or by mimicking the expressions of others.
Individuals with SETBP1 disorder have intellectual disability that can range from mild to moderate. They may also have behavioral problems, such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. Affected individuals may have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; or recurrent seizures (epilepsy).
Distinctive facial features in people with SETBP1 disorder can include a long face, a high forehead, eyebrows that grow together in the middle (synophrys), short eye openings (short palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), puffiness of the skin around the eyes (periorbital fullness), small nostrils, a high nasal bridge, a broad tip of the nose, a thin upper lip, a high arch in the roof of the mouth (high-arched palate), and a small chin.
MalaCards based summary :
Setbp1 Disorder, also known as
setbp1-related disorder, is related to
mental retardation, autosomal dominant 29. An important gene associated with Setbp1 Disorder is
SETBP1 (SET Binding Protein 1). Affiliated tissues include
eye,
skin and
testes.
NIH Rare Diseases :
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SETBP1 disorder is a neurodevelopmental disorder characterized by intellectual disability , mild to moderate developmental delay , autism or autistic traits , and attention deficit. Speech may be absent or delayed. Physical features may include a long face and elongated head (dolichocephaly), eyes that point downwards (downslanting palpebral fissures), and a thin upper lip. SETBP1 disorder is caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene . The SETBP1 gene is located on the long (q) arm of chromosome 18 . Because the features of SETBP1 disorder are common, a genetic test (such as whole exome or genome sequencing ) may be needed for diagnosis. A different type of mutation in the SETBP1 gene causes a different and more severe condition called Schinzel Giedion syndrome .
Wikipedia :
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SET binding protein 1 is a protein that in humans is encoded by the SETBP1...
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