ORPHA:193
Cohen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cohen syndrome | |
| fr | Syndrome de Cohen | |
| de | Cohen-Syndrom | |
| es | Síndrome de Cohen | |
| it | Sindrome di Cohen | |
| nl | Syndroom van Cohen | |
| pt | Síndrome Cohen | |
| pl | Zespół Cohena | |
| cs | Cohenův syndrom | |
| uk | Синдром Коена | |
| zh | 科恩综合征 | |
| tr | Cohen sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216550 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0008999 | E | validated | |
| MeSH | C536438 | E | validated | |
| UMLS | C0265223 | E | validated | |
| GARD | 6126 | E | validated | |
| MedDRA | 10049066 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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 - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2829Partington-Anderson syndrome moved to · inactive
- ORPHA:3084Mirhosseini-Holmes-Walton syndrome moved to · inactive
- ORPHA:3271Radio-ulnar synostosis-retinal pigment abnormalities syndrome moved to · inactive
- ORPHA:99142Microcephaly-cutis verticis gyrata-lymphedema syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VPS13B | Disease-causing germline mutation(s) in | Assessed | HGNC:2183 | ENSG00000132549 | 607817 | 8q22.2 | vacuolar protein sorting 13 homolog B |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | [EXPERT]_20301655[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301655[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
64 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0001166 | Arachnodactyly | |
| HP:0001135 | Chorioretinal dystrophy | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001263 | Global developmental delay | |
| HP:0002705 | High, narrow palate | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000527 | Long eyelashes | |
| HP:0000294 | Low anterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000194 | Open mouth | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001852 | Sandal gap | |
| HP:0000322 | Short philtrum | |
| HP:0011308 | Slender toe | |
| HP:0001182 | Tapered finger | |
| HP:0000574 | Thick eyebrow | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0200046 | Cat cry | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002967 | Cubitus valgus | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000823 | Delayed puberty | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0006101 | Finger syndactyly | |
| HP:0002857 | Genu valgum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001572 | Macrodontia | |
| HP:0004283 | Narrow palm | |
| HP:0001513 | Obesity | |
| HP:0004322 | Short stature | |
| HP:0100874 | Thick hair | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000028 | Cryptorchidism | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0000568 | Microphthalmia | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000767 | Pectus excavatum | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/193
- This record as JSON: /data/d/193.json