Cohen-Gibson syndrome
Synonyms: EED-related overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, intellectual disability (more severe than other diseases-Weaver syndrome and Imagawa-Matsumoto syndome in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cohen-Gibson syndrome | EED-related overgrowth syndrome |
| fr | Syndrome de Cohen-Gibson | Syndrome d'hypercroissance associé à EED |
| de | Cohen-Gibson-Syndrom | EED-assoziiertes Großwuchssyndrom |
| es | Síndrome de Cohen-Gibson | Síndrome de sobrecrecimiento asociado a EED |
| it | Sindrome di Cohen-Gibson | Sindrome da iperaccrescimento correlata a EED |
| nl | Syndroom van Cohen-Gibson | EED-gerelateerd overgroeisyndroom |
| pt | Síndrome Cohen-Gibson | Síndrome de sobrecrescimento EED-relacionada |
| pl | Zespół Cohena-Gibsona | = en |
| cs | Cohenové-Gibsonův syndrom | Cohen-Gibsonův syndrom |
| uk | Синдром Коена-Гібсона | Синдром надмірного росту, повязаний з EED |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617561 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| MONDO | 0060510 | E | validated | |
| MONDO | 60510 | E | validated | |
| UMLS | C4479654 | 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 (1):
- ORPHA:659387PRC-2 complex-related overgrowth spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EED | Disease-causing germline mutation(s) in | Assessed | HGNC:3188 | ENSG00000074266 | 605984 | 11q14.2 | embryonic ectoderm development | 30793471[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 34533271[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34533271[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/659396
- This record as JSON: /data/d/659396.json