White-Sutton Syndrome (WHSUS)

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Disease Ontology 12 DOID:0070067 OMIM 56 616364 OMIM Phenotypic Series 56 PS156200 MeSH 43 D008607

Orphanet 58 ORPHA468678 MedGen 41 C4225351 CN230318 SNOMED-CT via HPO 68 102968003 109504005 12479006 128602000 13213009 13649004 14582003 14760008 16331000 17190001 191736004 194021007 194424005 204043002 22006008 22066006 224958001 225595004 22810007 228156007 235595009 236069009 237836003 247578003 248004009 248062006 248200007 249327002 253251006 25786006 262016004 263681008 271611007 27272007 274521009 274524001 275259005 277843001 278849000 27911000 281016006 28835009 298203008 302289002 32003007 38101003 396232000 398206004 398302004 40700009 4103001 413924001 414396006 414915002 414916001 41497008 418143002 43476002 44548000 52522001 5507002 56727007 57190000 60700002 61372001 62221000119105 65956007 68574006 698065002 76976005 78164000 78275009 82649003 84328007 86765009 91138005 95427009 95515009 95646004 more EFO 17 EFO_0009079

Genetics Home Reference : ²⁵ White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor. People with White-Sutton syndrome have delayed development, with speech and language usually being more delayed than motor skills such as walking. Intellectual disability can range from borderline normal to severe. Most people with White-Sutton syndrome have mild abnormalities of the head and face, which can include an unusually small head (microcephaly); a wide, short skull (brachycephaly); wide-set eyes (hypertelorism); a flat or sunken appearance of the middle of the face (midface hypoplasia); and a small mouth with a thin upper lip. A wide variety of additional signs and symptoms can occur with White-Sutton syndrome. Among the more common are hyperactivity; sleeping difficulties; vision defects, especially farsightedness; gastrointestinal problems; obesity; and short stature. Some individuals with White-Sutton syndrome are born with a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia.

MalaCards based summary : White-Sutton Syndrome, also known as whsus, is related to smith-magenis syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with White-Sutton Syndrome is POGZ (Pogo Transposable Element Derived With ZNF Domain), and among its related pathways/superpathways are Hedgehog signaling pathway (KEGG) and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include eye, heart and pons, and related phenotypes are global developmental delay and hypertelorism

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of POGZ on chromosome 1q21.3.

OMIM : ⁵⁶ White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by White et al., 2016). A significant number of patients have autism or autistic features (summary by Stessman et al., 2016). (616364)

UniProtKB/Swiss-Prot : ⁷³ White-Sutton syndrome: A mental retardation syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss.

Wikipedia : ⁷⁴ White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of... more...

Clinical features from OMIM:

616364

Search Clinical Trials , NIH Clinical Center for White-Sutton Syndrome

Search GEO for disease gene expression data for White-Sutton Syndrome.