CHD8 overgrowth syndrome
Synonyms: CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome · Chromodomain helicase DNA binding protein 8 overgrowth syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions and seizures.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHD8 overgrowth syndrome | CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome · Chromodomain helicase DNA binding protein 8 overgrowth syndrome |
| fr | Syndrome de croissance excessive associé à CHD8 | Syndrome de croissance excessive associé à chromodomain helicase DNA binding protein 8 · Syndrome de déficience intellectuelle-autisme-macrocéphalie-grande taille associé à CHD8 |
| de | CHD8-assoziiertes Großwuchs-Syndrom | Intelligenzminderung-Autismus-Makrozephalie-Hochwuchs-Syndrom, CHD8-Gen-assoziiertes |
| es | Síndrome de sobrecrecimiento CHD8 | Síndrome de discapacidad intelectual-autismo-macrocefalia-talla alta asociado a CHD8 · Síndrome de sobrecrecimiento por la proteína 8 de unión al ADN con cromodominio helicasa |
| it | Sindrome da iperaccrescimento correlata a CHD8 | Sindrome da iperaccrescimento correlata alla proteina 8 legante il cromodominio elicasi DNA · Sindrome disabilità intellettiva-autismo-macrocefalia-alta statura correlata a CHD8 |
| nl | CHD8-overgroeisyndroom | CHD8-gerelateerd intellectuele achterstand - autisme - macrocefalie - grote gestalte-syndroom · Chromodomein helicase DNA-bindingsproteïne 8-overgroeisyndroom |
| pt | Síndrome de sobrecrescimento CHD8 | Síndrome de perturbação do desenvolvimento intelectual-autismo-macrocefalia-estatura elevada CHD8-relacionada · Síndrome de sobrecrescimento relacionado com o cromodomínio helicase da proteína 8 de ligação ao ADN |
| pl | Przerost CDH8 | Zespół przerostu CHD8 |
| cs | Syndrom nadměrného vzrůstu CHD8 | = en |
| uk | Синдром надмірного росту CHD8 | CHD8-повязаний синдром інтелектуальної недостатності-аутизму-макроцефалії-макроцефалії- високого зросту · Синдром надмірного росту хромодоменного геліказа ДНК-звязуючого білка 8 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615032 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| MONDO | 0014017 | E | validated | |
| UMLS | C5816801 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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 - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHD8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20153 | ENSG00000100888 | 610528 | 14q11.2 | chromodomain helicase DNA binding protein 8 | 24998929[PMID]_26789910[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 73 cases | Worldwide | Case(s) | Validated | 24998929[PMID]_26789910[PMID]_31721432[PMID]_31001818[PMID]_38441608[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24998929[PMID]_26789910[PMID]_31721432[PMID]_31001818[PMID]_38441608[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642675
- This record as JSON: /data/d/642675.json