ORPHA:2919
Orofaciodigital syndrome type 5
Synonyms: OFD5 · Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type · Polydactyly postaxial with median cleft of upper lip · Thurston syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly of hands and feet and median cleft of the upper lip. Oral manifestations may be present and can include bifid uvula, duplicated frenulum, enamel hypoplasia and tooth number abnormalities. Some cases might present with intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 5 | OFD5 · Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type · Polydactyly postaxial with median cleft of upper lip · Thurston syndrome |
| fr | Syndrome oro-facio-digital type 5 | OFD5 · Syndrome de Thurston · Syndrome de polydactylie postaxiale-fente labiale médiane · Syndrome orofacial type Thurston |
| de | Oro-fazio-digitales Syndrom Typ 5 | OFD5 · Oro-fazio-digitales Syndrom Typ Thurston · Postaxiale Polydaktylie mit medianer Spalte der Unterlippe · Thurston-Syndrom |
| es | Síndrome orofaciodigital tipo 5 | OFD5 · Polidactilia postaxial con hendidura mediana en el labio superior · Síndrome de Thurston · Síndrome orofaciodigital tipo Thurston |
| it | Sindrome orofaciodigitale, tipo 5 | OFD5 · Polidattilia postassiale con schisi mediana del labbro superiore · Sindrome di Thurston · Sindrome oro-facio-digitale, tipo 5 · Sindrome orofaciodigitale, tipo Thurston |
| nl | Orofaciodigitaal syndroom type 5 | OFD5 · Oraal-faciaal-digitaal syndroom type 5 · Orofaciodigitaal syndroom, Thurston-type · Postaxiale polydactylie met mediane splijting van bovenlip · Syndroom van Thurston |
| pt | Síndrome oro-facio-digital tipo 5 | OFD5 · Polidactilia pós-axial com fenda mediana do lábio superior · Síndrome oro-facio-digital tipo Thurston |
| pl | Zespół ustno-twarzowo-palcowy typu 5 | Zespół ustno-twarzowo-palcowy typu 5 · OFD5 · Polidaktylia pozaosiowa z pośrodkowym rozszczepem wargi górnej · Zespół Thurstona · Zespół ustno-twarzowo-palcowy, typ Thurstona |
| cs | Orofaciodigitální syndrom, typ 5 | OFD5 · Orální-faciální-digitální syndrom, typ 5 · Orofaciodigitální syndrom, Thurstonův typ · Postaxiální polydaktylie s mediánním rozštěpem horního rtu · Thurstonův syndrom |
| uk | Орофаціодигітальний синдром, тип 5 | OFD5 · Орально-лицево-пальцевий синдром, тип 5 · Орофаціодигітальний синдром, тип Терстона · Полідактилія постаксіальна з серединною розщілиною верхньої губи · Синдром Терстона |
| zh | 口-面-指综合征5型 | 轴后多指（趾）畸形伴上唇正中裂 |
| tr | Orofasiyodijital sendromu tip 5 | OFD5 · Thurston sendromu · Oral-fasiyal-dijital sendromu tip 5 · Orofasiyodijital sendromu, Thurston tipi · Üst dudağın medyan yarığı ile seyreden polidaktili postaksiyal |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174300 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0008267 | E | validated | |
| MeSH | C557819 | E | validated | |
| UMLS | C1868118 | E | validated | |
| GARD | 4120 | 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:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:369902OBSOLETE: DDX59-related orofaciodigital syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDX59 | Disease-causing germline mutation(s) in | Assessed | HGNC:25360 | ENSG00000118197 | 615464 | 1q32.1 | DEAD-box helicase 59 | 23972372[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 7150858[PMID]_23972372[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7150858[PMID]_23972372[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
27 annotations · validated 2019-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000161 | Median cleft lip | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0000288 | Abnormality of the philtrum | |
| HP:0000191 | Accessory oral frenulum | |
| HP:0010297 | Bifid tongue | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0010800 | Absent cupid's bow | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0012738 | Agenesis of canine | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000193 | Bifid uvula | |
| HP:0000185 | Cleft soft palate | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0010441 | Ectopic accessory finger-like appendage | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0002705 | High, narrow palate | |
| HP:0000668 | Hypodontia | |
| HP:0000252 | Microcephaly | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0005817 | Postaxial polysyndactyly of foot | |
| HP:0002650 | Scoliosis | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23972372[PMID]_16731396[PMID]_20305860[PMID]_23524810[PMID]_7426821[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2919
- This record as JSON: /data/d/2919.json