Oculocerebral hypopigmentation syndrome, Preus type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocerebral hypopigmentation syndrome, Preus type | |
| fr | Syndrome oculo-cérébral d'hypopigmentation, type Preus | |
| de | Okulozerebrales Hypopigmentierungs-Syndrom Typ Preus | |
| es | Síndrome oculocerebral-hipopigmentación tipo Preus | |
| it | Sindrome oculo-cerebrale-ipopigmentazione, tipo Preus | |
| nl | Oculocerebrale hypopigmentatie-syndroom, Preus-type | |
| pt | Síndrome hipopigmentação oculo-cerebral, tipo Preus | |
| pl | Zespół hipopigmentacji oczno-mózgowej typu Preus | |
| cs | Syndrom okulocerebrální hypopigmentace, Preusův typ | |
| uk | Окулоцеребральний синдром з гіпопігментацією, тип Преуса | |
| zh | 眼脑色素沉着不足综合征，Preus型 | |
| tr | Oküloserebral hipopigmentasyon sendromu, Preus tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257790 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| MONDO | 0009766 | E | validated | |
| MeSH | C537866 | E | validated | |
| UMLS | C2931646 | E | validated | |
| GARD | 4034 | 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 (7):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:284811Syndromic oculocutaneous albinism
rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 6663291[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6663291[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.
HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0001276 | Hypertonia | |
| HP:0001931 | Hypochromic anemia | |
| HP:0001249 | Intellectual disability | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0011364 | White hair | |
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0010662 | Abnormality of the diencephalon | |
| HP:0001166 | Arachnodactyly | |
| HP:0000238 | Hydrocephalus | |
| HP:0001107 | Ocular albinism | |
| Occasional (29-5%) | ||
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0000613 | Photophobia | |
| HP:0004349 | Reduced bone mineral density | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2720
- This record as JSON: /data/d/2720.json