ORPHA:468678
White-Sutton syndrome
Synonyms: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
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).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | White-Sutton syndrome | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| fr | Syndrome de White-Sutton | Syndrome de déficience intellectuelle-microcéphalie-strabisme-troubles du comportement |
| de | White-Sutton-Syndrom | Intelligenzminderung-Mikrozephalie-Strabismus-Verhaltensstörungen-Syndrom |
| es | Síndrome de White-Sutton | Síndrome de discapacidad intelectual-microcefalia-estrabismo-trastornos de conducta |
| it | Sindrome di White-Sutton | Sindrome da disabilità intellettiva, microcefalia, strabismo, anomalie del comportamento · Sindrome disabilità intellettiva-microcefalia-strabismo-anomalie del comportamento |
| nl | Syndroom van White-Sutton | Intellectuele achterstand - microcefalie - strabisme - gedragsstoornissen-syndroom |
| pt | Síndrome White-Sutton | Síndrome de perturbação do desenvolvimento intelectual-microcefalia-estrabismo-perturbações comportamentais |
| pl | Zespół Whitego i Suttona | = en |
| cs | Syndrom zahrnující mentální postižení, mikrocefalii, strabismus a poruchy chování | = en |
| uk | Синдром Уайта-Саттона | Синдром інтелектуальної недостатності - мікроцефалії - косоокості - поведінкових відхилень |
| zh | 智力障碍-小头畸形-斜视-行为异常综合征 | 怀特-萨顿综合征 |
| tr | Zihinsel yetersizlik-mikrosefali-şaşılık-davranışsal anormallikler sendromu | White-Sutton sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616364 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014606 | E | validated | |
| UMLS | C4225351 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POGZ | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18801 | ENSG00000143442 | 614787 | 1q21.3 | pogo transposable element derived with ZNF domain | 26739615[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26739615[PMID]_27148570[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
72 annotations · validated 2019-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000729 | Autistic behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000252 | Microcephaly | |
| HP:0001513 | Obesity | |
| HP:0006863 | Severe expressive language delay | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0000483 | Astigmatism | |
| HP:0000248 | Brachycephaly | |
| HP:0012450 | Chronic constipation | |
| HP:0002353 | EEG abnormality | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011800 | Midface retrusion | |
| HP:0000545 | Myopia | |
| HP:0000160 | Narrow mouth | |
| HP:0000194 | Open mouth | |
| HP:0000307 | Pointed chin | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000618 | Blindness | |
| HP:0000455 | Broad nasal tip | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0012448 | Delayed myelination | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000081 | Duplicated collecting system | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0000297 | Facial hypotonia | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000218 | High palate | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0002311 | Incoordination | |
| HP:0000023 | Inguinal hernia | |
| HP:0000612 | Iris coloboma | |
| HP:0001382 | Joint hypermobility | |
| HP:0000272 | Malar flattening | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0002933 | Ventral hernia | |
| HP:0001045 | Vitiligo | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30136090[PMID]_26739615[PMID]_26942287[PMID]_25533962[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468678
- This record as JSON: /data/d/468678.json