CHD4-related neurodevelopmental disorder
Synonyms: CHD4-related neurodevelopmental syndrome · Sifrim-Hitz-Weiss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males).
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHD4-related neurodevelopmental disorder | CHD4-related neurodevelopmental syndrome · Sifrim-Hitz-Weiss syndrome |
| fr | Trouble du neurodéveloppement associé à CHD4 | Syndrome Sifrim-Hitz-Weiss · Syndrome neurodevelopmental associé à CHD4 · Trouble du neuro-développement associé à CHD4 · Trouble neuro-développemental associé à CHD4 · Trouble neurodéveloppemental associé à CHD4 |
| de | CHD4-assoziierte neurologische Entwicklungsstörung | Sifrim-Hitz-Weiss-Syndrom |
| es | Trastorno del neurodesarrollo asociado a CHD4 | Síndrome de Sifrim-Hitz-Weiss · Síndrome del neurodesarrollo asociado a CHD4 |
| it | Malattia del neurosviluppo correlata a CHD4 | Sindrome del neurosviluppo correlata a CHD4 · Sindrome di Sifrim-Hitz-Weiss |
| nl | CHD4-gerelateerde neurologische ontwikkelingsstoornis | CHD4-gerelateerd neurologische ontwikkelingssyndroom · Syndroom van Sifrim-Hitz-Weiss |
| pt | Doença do neurodesenvolvimento CHD4-relacionada | Síndrome Sifrim-Hitz-Weiss · Síndrome de neurodesenvolvimento CHD4-relacionada |
| pl | Zaburzenia neurorozwojowe związane z CHD4 | = en |
| cs | Neurovývojová porucha související s CHD4 | = en |
| uk | CHD4-повязане порушення нейророзвитку | Синдром нейророзвитку, повязаний з CHD4 · Синдром Сіфріма-Гітца-Вайсса |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617159 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014946 | E | validated | |
| MONDO | 14946 | E | validated | |
| UMLS | C4310688 | 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 |
|---|---|---|---|---|---|---|---|---|
| CHD4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1919 | ENSG00000111642 | 603277 | 12p13.31 | chromodomain helicase DNA binding protein 4 | 37324594[PMID]_31388190[PMID]_ |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 32881470[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32881470[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/653712
- This record as JSON: /data/d/653712.json