Chudley-McCullough syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chudley-McCullough syndrome | |
| fr | Syndrome de Chudley-McCullough | |
| de | Chudley-McCullough-Syndrom | |
| es | Síndrome de Chudley-McCullough | |
| it | Sindrome di Chudley-McCullough | |
| nl | Syndroom van Chudley-McCullough | |
| pt | Síndrome de Chudley-McCullough | |
| pl | Zespół Chudley'a i McCullougha | |
| cs | Chudleyho-McCulloughových syndrom | Chudley-McCulloughových syndrom |
| uk | Синдром Чадлі-Маккаллафа | |
| zh | Chudley-McCullough综合征 | |
| tr | Chudley-McCullough sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604213 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0011411 | E | validated | |
| MeSH | C535459 | E | validated | |
| UMLS | C1858695 | E | validated | |
| GARD | 86 | 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 (4):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPSM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29501 | ENSG00000121957 | 609245 | 1p13.3 | G protein signaling modulator 2 | 22578326[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
11 annotations · validated 2026-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008527 | Congenital sensorineural hearing impairment | |
| Very frequent (99-80%) | ||
| HP:0030048 | Colpocephaly | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0011476 | Profound sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0100702 | Arachnoid cyst | |
| HP:0002539 | Cortical dysplasia | |
| HP:0002126 | Polymicrogyria | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0007033 | Cerebellar dysplasia | |
| HP:0002282 | Gray matter heterotopia | |
| HP:6000989 | Slit-like lateral ventricle | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27312216[PMID]_21127420[PMID]_17962956[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314597
- This record as JSON: /data/d/314597.json