White-Sutton syndrome; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Engelsk navn: White-Sutton syndrome
Engelske synonym: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 468678
Klassifiseringsnivå: DisorderICD-10: Q