ORPHA:2712
Oculofaciocardiodental syndrome
Synonyms: Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome · OFCD syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculofaciocardiodental syndrome | Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome · OFCD syndrome |
| fr | Syndrome oculo-facio-cardio-dentaire | Syndrome OFCD · Syndrome de cataracte-microphtalmie-radiculomégalie-défaut du septum cardiaque |
| de | Okulo-fazio-kardio-dentales Syndrom | Katarakt - Mikrophthalmie - Radikulomegalie - Herzseptumdefekt · OFCD-Syndrom |
| es | Síndrome óculo-facio-cardio-dental | Microftalmia sindrómica tipo 2 · Síndrome OFCD · Síndrome de catarata-microftalmia-radiculomegalia-defecto septal cardíaco |
| it | Sindrome oculo-facio-cardio-dentale | Cataratta - microftalmia - radiculomegalia - difetto del setto cardiaco · Sindrome OFCD |
| nl | Oculofaciocardiodentaal syndroom | Cataract - microftalmie - radiculomegalie - hartseptumdefect-syndroom · OFCD-syndroom |
| pt | Síndrome oculo-facio-cardio-dentário | Síndrome OFCD · Síndrome catarata-microftalmia-radiculomegalia-defeito do septo cardíaco |
| pl | Zespół oczno-twarzowo-sercowo-zębowy | Zaćma - mikroftalmia - radikulomegalia - wada przegrody serca · Zespół OFCD |
| cs | Okulofaciokardiodentální syndrom | OFCD syndrom · Syndrom zahrnující kataraktu, mikrooftalmii, radikulomegalii a defekt srdečního septa |
| uk | Окулофаціокардіодентальний синдром | Синдром катаракти-мікрофтальмії-радикуломегалії-дефекту міжпередсердної перегородки · Синдром OFCD |
| zh | 眼面心牙综合征 | 白内障-小眼-神经根肿大-心脏间隔缺损综合征 |
| tr | Okülofasiyokardiyodental sendrom | OFCD sendromu · Katarakt-mikroftalmi-radikülomegali-kardiyak septal defekt sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300166 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| UMLS | C1846265 | E | validated | |
| GARD | 4628 | 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 (8):
- 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:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3013Radiculomegaly of canine teeth- congenital cataract moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCOR | Disease-causing germline mutation(s) in | Assessed | HGNC:20893 | ENSG00000183337 | 300485 | Xp11.4 | BCL6 corepressor | 22301464[PMID]_15004558[PMID]_15770227[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
43 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000456 | Bifid nasal tip | |
| HP:0000518 | Cataract | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0001169 | Broad palm | |
| HP:0000175 | Cleft palate | |
| HP:0010327 | Flexion contracture of the 2nd toe | |
| HP:0010339 | Flexion contracture of the 4th toe | |
| HP:0011090 | Fused teeth | |
| HP:0001765 | Hammertoe | |
| HP:0000343 | Long philtrum | |
| HP:0000275 | Narrow face | |
| HP:0000677 | Oligodontia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0000692 | Tooth malposition | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002967 | Cubitus valgus | |
| HP:0001083 | Ectopia lentis | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002857 | Genu valgum | |
| HP:0000501 | Glaucoma | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001249 | Intellectual disability | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000612 | Iris coloboma | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0000508 | Ptosis | |
| HP:0000541 | Retinal detachment | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009778 | Short thumb | |
| HP:0006315 | Single median maxillary incisor | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2712
- This record as JSON: /data/d/2712.json