Oculo-palato-cerebral syndrome
Synonyms: Oculo-palato-cerebral dwarfism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare orofacial clefting syndrome characterized by persistent hyperplastic primary vitreous, microphthalmia, microcephaly, small hands and feet, and mild-to-severe intellectual disability. Facial dysmorphic features include bulbous nose, full cheeks, and a cleft palate. Other symptoms may include cerebral atrophy, hearing loss and atopic dermatitis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculo-palato-cerebral syndrome | Oculo-palato-cerebral dwarfism |
| fr | Syndrome oculo-palato-cérébral | Nanisme oculo-palato-cérébral |
| de | Okulo-palato-zerebrales Syndrom | Kleinwuchs, okulo-palato-zerebraler |
| es | Síndrome óculo-palato-cerebral | Enanismo óculo-palato-cerebral |
| it | Sindrome oculo-palato-cerebrale | Nanismo oculo-palato-cerebrale |
| nl | Oculopalatocerebraal syndroom | Oculopalatocerebrale dwerggroei |
| pt | Nanismo oculo-palato-cerebral | |
| pl | Zespół oczno-podniebienno-mózgowy | Karłowatość oczno-podniebienno-mózgowa |
| cs | Okulopalatocerebrální syndrom | Okulopalatocerebrální trpaslictví |
| uk | Окулопалатоцеребральний синдром | Окулярно-палато-церебральна карликовість |
| zh | 眼-腭-大脑综合征 | 眼-腭-大脑侏儒症 |
| tr | Okülo-palato-serebral sendromu | Okülo-palato-serebral cücelik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257910 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009769 | E | validated | |
| MeSH | C564935 | E | validated | |
| UMLS | C1850338 | 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:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
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 | 5 cases | Worldwide | Case(s) | Validated | 3995792[PMID]_11241490[PMID]_15368502[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3995792[PMID]_11241490[PMID]_15368502[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
24 annotations · validated 2019-02-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002099 | Asthma | |
| HP:0000568 | Microphthalmia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0008386 | Aplasia/Hypoplasia of the nails | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | Diagnostic criterion |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0002705 | High, narrow palate | Diagnostic criterion |
| HP:0001249 | Intellectual disability | Diagnostic criterion |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000555 | Leukocoria | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0007968 | Remnants of the hyaloid vascular system | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | Diagnostic criterion |
| HP:0200055 | Small hand | |
| HP:0001257 | Spasticity | |
| HP:0000391 | Thickened helices | |
| Occasional (29-5%) | ||
| HP:0000501 | Glaucoma | |
| HP:0002283 | Global brain atrophy | Diagnostic criterion |
| HP:0000541 | Retinal detachment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 3995792[PMID]_11241490[PMID]_100893[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2714
- This record as JSON: /data/d/2714.json