Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language short stature acquired microcephaly kyphoscoliosis or scoliosis and behavioral disturbances that include hyperactivity stereotypy and aggressiveness. Facial dysmorphism that typically includes sloping forehead mild synophrys deep-set eyes strabismus anteverted large ears prominent nose and dental malposition is also characteristic.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome?
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