Oculocerebral hypopigmentation syndrome, Cross type
Synonyms: Cross syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocerebral hypopigmentation syndrome, Cross type | Cross syndrome |
| fr | Syndrome oculo-cérébral d'hypopigmentation, type Cross | Syndrome de Cross |
| de | Okulozerebrales Hypopigmentierungs-Syndrom Typ Cross | Cross-Syndrom |
| es | Síndrome oculocerebral-hipopigmentación tipo Cross | Síndrome de Cross · Síndrome hipopigmentación-oculocerebral tipo Cross |
| it | Sindrome oculo-cerebrale-ipopigmentazione, tipo Cross | Sindrome di Cross |
| nl | Oculocerebrale hypopigmentatie-syndroom, Cross-type | Syndroom van Cross |
| pt | Síndrome hipopigmentação oculo-cerebral, tipo Cross | Síndrome Cross |
| pl | Zespół hipopigmentacji oczno-mózgowej typu Crossa | Zespół Crossa |
| cs | Syndrom okulocerebrální hypopigmentace, Crossův typ | Crossův syndrom |
| uk | Окулоцеребральний синдром з гіпопігментацією, тип Кросс | Перехресний синдром |
| zh | 眼脑色素沉着不足综合征，Cross型 | Cross综合征 |
| tr | Oküloserebral hipopigmentasyon sendromu, Cross tip | Çapraz sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257800 | E | validated | |
| ICD-10 | E70.3 | NTBT | inclusion | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0009767 | E | validated | |
| UMLS | C2936910 | E | validated | |
| GARD | 105 | 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 | 14 cases | Worldwide | Case(s) | Validated | 9112000[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9112000[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
45 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0001249 | Intellectual disability | |
| HP:0004322 | Short stature | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0100022 | Abnormality of movement | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001903 | Anemia | |
| HP:0000463 | Anteverted nares | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0001166 | Arachnodactyly | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000268 | Dolichocephaly | |
| HP:0002353 | EEG abnormality | |
| HP:0000656 | Ectropion | |
| HP:0001510 | Growth delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000691 | Microdontia | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0001107 | Ocular albinism | |
| HP:0003196 | Short nose | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001608 | Abnormality of the voice | |
| HP:0002305 | Athetosis | |
| HP:0001139 | Choroideremia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0000023 | Inguinal hernia | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000252 | Microcephaly | |
| HP:0000545 | Myopia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000071 | Ureteral stenosis | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2719
- This record as JSON: /data/d/2719.json