ORPHA:2754
Orofaciodigital syndrome type 6
Synonyms: Joubert syndrome with oral-facial-digital syndrome · Joubert syndrome with orofaciodigital defect · OFD6 · Oral-facial-digital syndrome type 6 · Polydactyly-cleft lip/palate-psychomotor retardation syndrome · Váradi syndrome · Váradi-Papp syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 6 | Joubert syndrome with oral-facial-digital syndrome · Joubert syndrome with orofaciodigital defect · OFD6 · Oral-facial-digital syndrome type 6 · Polydactyly-cleft lip/palate-psychomotor retardation syndrome · Váradi syndrome · Váradi-Papp syndrome |
| fr | Syndrome orofaciodigital type 6 | OFD6 · Syndrome de Joubert avec atteinte orofaciodigitale · Syndrome de Váradi · Syndrome de Váradi-Papp · Syndrome de polydactylie-fente labiopalatine-retard psychomoteur |
| de | Oro-fazio-digitales Syndrom Typ 6 | Joubert-Syndrom mit oro-fazio-digitalem Defekt · OFD6 · Polydaktylie-Lippen-/Gaumenspalte-psychomotorische Entwicklungsverzögerung-Syndrom · Váradi-Papp-Syndrom · Váradi-Syndrom |
| es | Síndrome orofaciodigital tipo 6 | OFD6 · Síndrome de Joubert con defecto orofaciodigital · Síndrome de Joubert con síndrome oro-facio-digital · Síndrome de Váradi · Síndrome de Váradi-Papp · Síndrome de polidactilia-fisura labiopalatina-retraso psicomotor · Síndrome oro-facio-digital tipo 6 |
| it | Sindrome di Joubert con difetto oro-facio-digitale | OFD6 · Polidattilia - labio/palatoschisi - ritardo psicomotorio · Sindrome di Varadi-Papp · Sindrome di Váradi · Sindrome orale-facciale-digitale, tipo 6 · Sindrome oro-facio-digitale, tipo 6 |
| nl | Orofaciodigitaal syndroom type 6 | OFD6 · Oraal-faciaal-digitaal syndroom type 6 · Polydactylie - gespleten lip/verhemelte - psychomotorische retardatie-syndroom · Syndroom van Joubert met oraal-faciaal-digitaal syndroom · Syndroom van Joubert met orofaciodigitaal defect · Syndroom van Váradi · Syndroom van Váradi-Papp |
| pt | Síndrome oro-facio-digital tipo 6 | OFD6 · Síndrome Joubert com defeito oro-facio-digital |
| pl | Zespół Jouberta ze spektrum ustno-twarzowo-palcowym | OFD6 · Polidaktylia - rozszczep wargi/podniebienia - opóźnienie rozwoju psychomotorycznego · Zespół ustno-twarzowo-palcowy typu 7 · Zespół ustno-twarzowo-palcowy typu 7 · Zespół Váradi · Zespół Váradi i Pappa |
| cs | Joubertův syndrom s orofaciodigitálním defektem | OFD6 · Orofaciodigitální syndrom, typ 6 · Váradiové syndrom · Syndrom zahrnující polydaktylii, rozštěp rtu/patra a psychomotorickou retardaci · Váradiové-Pappův syndrom · Váradi-Pappův syndrom |
| uk | Орофаціодигітальний синдром, тип 6 | Синдром Жубера з орально-лицево-пальцевим синдромом · Синдром Жубера з орофаціально-пальцевим дефектом · OFD6 · Орально-лицево-пальцевий синдром, тип 6 · Синдром полідактилії - розщілини губи/піднебіння - затримки психомоторного розвитку · Синдром Вараді · Синдром Вараді-Паппа |
| zh | 口面指综合征6型 | 多指(趾)畸形-唇/腭裂-精神运动发育迟缓综合征 |
| tr | Orofasiyodijital sendrom tip 6 | OFD6 · Váradi sendromu · Váradi-Papp sendromu · Oral-fasiyal-dijital sendromu tip 6 · Orofasiyodijital defekt ile seyreden Joubert sendromu · Oral-fasiyal-dijital sendrom ile seyreden Joubert sendromu · Polidaktili-yarık dudak / damak-psikomotor gerilik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277170 | E | validated | |
| OMIM | 300804 | BTNT | validated | |
| OMIM | 614815 | BTNT | validated | |
| OMIM | 615665 | BTNT | validated | |
| OMIM | 617127 | BTNT | validated | |
| OMIM | 618763 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0010176 | E | validated | |
| MeSH | C536531 | E | validated | |
| UMLS | C2745997 | E | validated | |
| GARD | 4412 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:140874Joubert syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2752Orofaciodigital syndrome type 3 moved to · inactive
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Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE6D | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8788 | ENSG00000156973 | 602676 | 2q37.1 | phosphodiesterase 6D | 24166846[PMID] |
| CPLANE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25801 | ENSG00000197603 | 614571 | 5p13.2 | ciliogenesis and planar polarity effector complex subunit 1 | 24178751[PMID] |
| FAM149B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29162 | ENSG00000138286 | 618413 | 10q22.2 | family with sequence similarity 149 member B1 | 30905400[PMID] |
| KIAA0753 | Disease-causing germline mutation(s) in | Assessed | HGNC:29110 | ENSG00000198920 | 617112 | 17p13.1 | KIAA0753 | 26643951[PMID] |
| KIF7 | Disease-causing germline mutation(s) in | Assessed | HGNC:30497 | ENSG00000166813 | 611254 | 15q26.1 | kinesin family member 7 | 20301500[PMID]_21633164[PMID] |
| OFD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2567 | ENSG00000046651 | 300170 | Xp22.2 | OFD1 centriole and centriolar satellite protein | 20301500[PMID] |
| TCTN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24519 | ENSG00000119977 | 613847 | 10q24.1 | tectonic family member 3 | 22883145[PMID]_20301500[PMID] |
| TMEM216 | Disease-causing germline mutation(s) in | Assessed | HGNC:25018 | ENSG00000187049 | 613277 | 11q13.1 | transmembrane protein 216 | 20615230[PMID]_20301500[PMID] |
| TMEM231 | Disease-causing germline mutation(s) in | Assessed | HGNC:37234 | ENSG00000205084 | 614949 | 16q23.1 | transmembrane protein 231 | 26982032[PMID] |
| TOPORS | Disease-causing germline mutation(s) in | Assessed | HGNC:21653 | ENSG00000197579 | 609507 | 9p21.1 | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | 34132027[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 20512146[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20512146[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
52 annotations · validated 2018-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0001251 | Ataxia | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001156 | Brachydactyly | |
| HP:0000455 | Broad nasal tip | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0040019 | Finger clinodactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0011802 | Hamartoma of tongue | Diagnostic criterion |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0007036 | Hypoplasia of olfactory tract | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000180 | Lobulated tongue | |
| HP:0000276 | Long face | |
| HP:0000347 | Micrognathia | |
| HP:0002419 | Molar tooth sign on MRI | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0100258 | Preaxial polydactyly | |
| HP:0004322 | Short stature | |
| HP:0001159 | Syndactyly | |
| HP:0000199 | Tongue nodules | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002104 | Apnea | |
| HP:0006145 | Central Y-shaped metacarpal | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002876 | Episodic tachypnea | |
| HP:0001829 | Foot polydactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002444 | Hypothalamic hamartoma | Diagnostic criterion |
| HP:0100260 | Mesoaxial polydactyly | Diagnostic criterion |
| HP:0009084 | Midline notch of upper alveolar ridge | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000104 | Renal agenesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
Annotation source: 20615230[PMID]_17377524[PMID]_2309783[PMID]_23523602[PMID]_8256802[PMID]_2309783[PMID]_7381865[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2754
- This record as JSON: /data/d/2754.json