CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Synonyms: Snijders Blok-Campeau syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | Snijders Blok-Campeau syndrome |
| fr | Syndrome de retard de développement-retard de langage-déficience intellectuelle-troubles visuels-dysmorphie faciale associé à CHD3 | Syndrome de Snijders Blok-Campeau |
| de | CHD3-abhängige Sprach-/Entwicklungsverzögerung-Intelligenzminderung-Sehstörungen-Gesichtsdysmorphie-Syndrom | Snijders Blok-Campeau-Syndrom |
| es | Síndrome de retraso del desarrollo-retraso del habla-discapacidad intelectual-anomalías visuales-dismorfia facial asociado al gen CHD3 | Síndrome de Snijders Blok-Campeau |
| it | Sindrome da ritardo dello sviluppo e del linguaggio, disabilità intellettiva, anomalie della vista e dismorfismi facciali correlata a CHD3 | Sindrome di Snijders Blok-Campeau |
| nl | CHD3-gerelateerd syndroom van ontwikkelingsachterstand - spraakachterstand - intellectuele achterstand - afwijkend gezichtsvermogen - faciale dysmorfie | Syndroom van Snijders Blok-Campeau |
| pt | Síndrome de perturbação do desenvolvimento, da linguagem e do desenvolvimento intelectual-anomalias visuais-dismorfia facial CHD3-relacionada | Síndrome Snijders Blok-Campeau |
| pl | Zespół dysmorfii twarzy, zaburzeń widzenia, niepełnosprawności intelektualnej, opóźnienia mowy oraz opóźnionego rozwoju związany CHD3 | Zespół Snijdersa Bloka i Campeau'a |
| cs | Syndrom zahrnující vývojové opoždění související s CHD3, opoždění řeči, mentální retardaci, abnormality zraku a obličejový dysmorfismus | = en |
| uk | CHD3-повязаний синдром затримки розвитку-затримки мовлення-розумової відсталості-порушення зору-дисморфізму обличчя | Синдром Снейдерса-Блока-Кампо |
| zh | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | = en |
| tr | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618205 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0032600 | E | validated | |
| UMLS | C4748701 | 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 (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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1918 | ENSG00000170004 | 602120 | 17p13.1 | chromodomain helicase DNA binding protein 3 | 30397230[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 30397230[PMID]_32483341[PMID]_34535214[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/599082
- This record as JSON: /data/d/599082.json