ORPHA:1647
Oculocerebrocutaneous syndrome
Synonyms: Delleman syndrome · Delleman-Oorthuys syndrome · Leichtman-Wood-Rohn syndrome · OCCS · Orbital cyst with cerebral and focal dermal malformations
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocerebrocutaneous syndrome | Delleman syndrome · Delleman-Oorthuys syndrome · Leichtman-Wood-Rohn syndrome · OCCS · Orbital cyst with cerebral and focal dermal malformations |
| fr | Syndrome oculo-cérébro-cutané | OCCS · Syndrome de Delleman · Syndrome de Delleman-Oorthuys · Syndrome de Leichtman-Wood-Rohn · Syndrome de kyste orbitaire-malformations cérébrales-hypoplasie dermique en aires |
| de | Okulo-zerebro-kutanes Syndrom | Delleman-Oorthuys-Syndrom · Delleman-Syndrom · Leichtman-Wood-Rohn-Syndrom · OCCS · Orbitazyste mit zerebralen und fokal-dermalen Fehlbildungen |
| es | Síndrome óculo-cerebro-cutáneo | OCCS · Quiste orbitario con malformaciones dérmicas focales y cerebrales · Síndrome de Delleman · Síndrome de Delleman-Oorthuys · Síndrome de Leichtman-Wood-Rohn |
| it | Sindrome oculo-cerebro-cutanea | Cisti orbitaria con malformazioni cerebrali e cutanee focali · OCCS · Sindrome di Delleman · Sindrome di Delleman-Oorthuys · Sindrome di Leichtman-Wood-Rohn |
| nl | Oculo-cerebro-cutaan syndroom | Delleman-Oorthuyssyndroom · Dellemansyndroom · Leichtman-Wood-Rohnsyndroom · OCCS · Orbitale cyste met cerebrale en focale dermale misvormingen |
| pt | Síndrome oculo-cerebro-cutâneo | Quisto orbital-malformações cerebrais e dérmicas focais · Síndrome Delleman-Oorthuys · Síndrome Leichtman-Wood-Rohn |
| pl | Zespół oczno-mózgowo-skórny | OCCS · Torbiel oczodołu z malformacjami mózgu oraz ogniskowymi malformacjami skórnymi · Zespół Dellemana · Zespół Dellemana i Oorthuysa · Zespół Leichtmana, Wooda i Rohna |
| cs | Okulocerebrokutánní syndrom | OCCS · Orbitální cysta s cerebrálními a fokálními dermálními malformacemi · Dellemanův syndrom · Dellemanův-Oorthuysův syndrom · Leichtmanův-Woodův-Rohnův syndrom · Delleman-Oorthuysův syndrom · Leichtman-Wood-Rohnův syndrom |
| uk | Окулоцереброкутанний синдром | Синдром Деллемана · Синдром Деллемана-Ортвейса · Синдром Лейхтмана-Вуда-Рона · OCCS · Кіста орбіти з церебральними та вогнищевими шкірними вадами розвитку |
| zh | 眼-大脑-皮肤综合征 | 眼眶囊肿伴脑部及局灶性皮肤畸形 |
| tr | Oküloserebrokutanöz sendrom | OCCS · Delleman sendromu · Delleman-Oorthuys sendromu · Leichtman-Wood-Rohn sendromu · Serebral ve fokal dermal malformasyonlu orbital kist |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164180 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.Y | NTBT | index | validated |
| MONDO | 0008108 | E | validated | |
| MeSH | C538088 | E | validated | |
| UMLS | C0796092 | E | validated | |
| GARD | 106 | E | validated | |
| MedDRA | 10088432 | 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 (3):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 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.
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HPO phenotypes
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001249 | Intellectual disability | |
| HP:0002126 | Polymicrogyria | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0010609 | Skin tags | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0001596 | Alopecia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000028 | Cryptorchidism | |
| HP:0000625 | Eyelid coloboma | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001362 | Skull defect | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0007957 | Corneal opacity | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001260 | Dysarthria | |
| HP:0100777 | Exostoses | |
| HP:0002006 | Facial cleft | |
| HP:0006101 | Finger syndactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0000612 | Iris coloboma | |
| HP:0000921 | Missing ribs | |
| HP:0000639 | Nystagmus | |
| HP:0000202 | Orofacial cleft | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001883 | Talipes | |
| HP:0000154 | Wide mouth | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1647
- This record as JSON: /data/d/1647.json