SETBP1 haploinsufficiency disorder

SETBP1 haploinsufficiency disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.

In people with SETBP1 haploinsufficiency disorder, problems with vocabulary and the production of speech (expressive language skills) are generally more severely affected than the ability to understand speech (receptive language skills). About 80 percent of affected children have a condition called childhood apraxia of speech, in which they have difficulty with the mouth movements needed to speak. 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 haploinsufficiency disorder have intellectual disability that can range from mild to moderate. They may also have neurodevelopment 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 haploinsufficiency 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.