ORPHA:2707
Oculocerebrofacial syndrome, Kaufman type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocerebrofacial syndrome, Kaufman type | |
| fr | Syndrome oculo-cérébro-facial type Kaufman | |
| de | Okulo-zerebro-faziales Syndrom, Typ Kaufman | Kaufman-Syndrom |
| es | Síndrome óculo-cerebro-facial tipo Kaufman | |
| it | Sindrome oculo-cerebro-facciale, tipo Kaufman | |
| nl | Oculo-cerebro-faciaal syndroom, Kaufman-type | |
| pt | Síndrome oculo-cerebro-facial, tipo Kaufman | |
| pl | Zespół oczno-mózgowo-twarzowy typu Kaufmana | |
| cs | Okulocerebrofaciální syndrom, Kaufmanův typ | |
| uk | Окулоцереброфаціальний синдром, тип Кауфмана | |
| zh | 眼脑面综合征，Kaufman型 | |
| tr | Oküloserebrofasiyal sendrom, Kaufman tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 244450 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009485 | E | validated | |
| MeSH | C537013 | E | validated | |
| UMLS | C1855663 | E | validated | |
| GARD | 3084 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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:98575Syndromic telecanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:329255Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBE3B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13478 | ENSG00000151148 | 608047 | 12q24.11 | ubiquitin protein ligase E3B | 23687348[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 27763745[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27763745[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.
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HPO phenotypes
44 annotations · validated 2017-09-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0001166 | Arachnodactyly | |
| HP:0000248 | Brachycephaly | |
| HP:0002094 | Dyspnea | |
| HP:0005469 | Flat occiput | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001833 | Long foot | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000648 | Optic atrophy | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0000278 | Retrognathia | |
| HP:0001328 | Specific learning disability | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000159 | Abnormal lip morphology | |
| HP:0000177 | Abnormality of upper lip | |
| HP:0002223 | Absent eyebrow | |
| HP:0000581 | Blepharophimosis | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0002705 | High, narrow palate | |
| HP:0000276 | Long face | |
| HP:0000482 | Microcornea | |
| HP:0000691 | Microdontia | |
| HP:0010547 | Muscle flaccidity | |
| HP:0000545 | Myopia | |
| HP:0000275 | Narrow face | |
| HP:0000639 | Nystagmus | |
| HP:0000384 | Preauricular skin tag | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| HP:0045074 | Thin eyebrow | |
| HP:0000233 | Thin vermilion border | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0001135 | Chorioretinal dystrophy | |
| HP:0001139 | Choroideremia | |
| HP:0008665 | Clitoral hypertrophy | |
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/2707
- This record as JSON: /data/d/2707.json