/intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Rare Disease

MONDO:0014606

Also Known As

MRD37WHSUSautosomal dominant intellectual disability 37autosomal dominant mental retardation 37intellectual disability, autosomal dominant type 37intellectual disability-microcephaly-strabismus-behavioral abnormalities syndromemental retardation, autosomal dominant type 37WHITE-Sutton syndromeWhite-Sutton syndromeintellectual disability, autosomal dominant 37mental retardation, autosomal dominant 37

Definition

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, 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).