CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare malformation syndrome characterized by global developmental delay with intellectual disability, speech delay, hypotonia, neurobehavioral symptoms including autism spectrum disorder, repetitive behaviors, attention deficit hyperactivity disorder, and sleep abnormalities. Dysmorphic facial features may include microcephaly (or sometimes macrocephaly), a round face, a flat head with a shortened forehead, hypertelorism, upslanted palpebral fissures, bulbous nose, wide nasal bridge, short philtrum, tented upper lip, and dental abnormalities (most commonly retained primary teeth). Additional clinical features can include recurrent infections, cyclic vomiting syndrome, seizures, and nonspecific congenital malformations.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome | |
| fr | Syndrome de déficience intellectuelle-dysmorphie faciale-troubles du comportement associé à CHAMP1 | |
| de | CHAMP1-assoziierte syndromale Intelligenzminderung mit Gesichtsdysmorphien und Verhaltensauffälligkeiten | NEDHILD · Syndrom der neurologischen Entwicklungsstörung mit Hypotonie, Sprachstörungen und dysmorphen Merkmalen |
| es | Síndrome de discapacidad intelectual-dismorfia facial-trastornos de conducta asociado a CHAMP1 | |
| it | Sindrome disabilità intellettiva-dismorfismi facciali-anomalie comportamentali correlata a CHAMP1 | |
| nl | CHAMP1-gerelateerd intellectuele achterstand - faciale dysmorfie - gedragsafwijkingen-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-anomalias comportamentais CHAMP1-relacionada | |
| pl | Zespół niepełnosprawności intelektualnej, dysmorfii twarzy i zaburzeń zachowania związany z CHAMP1 | |
| cs | Syndrom související s CHAMP1 zahrnující intelektovou nedostatečnost, faciální dysmorfii, anomálie chrupu, abnormality chování a mikrocefalii |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616579 | 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 |
|---|---|---|---|---|---|---|---|---|
| CHAMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20311 | ENSG00000198824 | 616327 | 13q34 | chromosome alignment maintaining phosphoprotein 1 | 37628598[PMID]_35271727[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 25533962[PMID]_26340335[PMID]_26751395[PMID]_34021018[PMID]_35271727[PMID]_37628598[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25533962[PMID]_26340335[PMID]_26751395[PMID]_34021018[PMID]_35271727[PMID]_37628598[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/692193
- This record as JSON: /data/d/692193.json