ORPHA:2439
Patterson-Stevenson-Fontaine syndrome
Synonyms: Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Patterson-Stevenson-Fontaine syndrome | Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome |
| fr | Syndrome Patterson-Stevenson-Fontaine | Syndrome de Patterson-Stevenson · Syndrome de pieds fendus-dysostose mandibulo-faciale |
| de | Spalthand mit mandibulofazialer Dysostose | Patterson-Stevenson-Syndrom |
| es | Síndrome de Patterson-Stevenson-Fontaine | Deformidad con pies hendidos-disostosis mandibulofacial · Síndrome de Patterson-Stevenson |
| it | Sindrome di Patterson-Stevenson-Fontaine | Schisi dei piedi - disostosi mandibolofacciale · Sindrome di Patterson-Stevenson |
| nl | Syndroom van Patterson-Stevenson-Fontaine | Gespleten voet - mandibulofaciale dysostose-syndroom · Syndroom van Patterson-Stevenson |
| pt | Síndrome Patterson-Stevenson-Fontaine | Síndrome Patterson-Stevenson · Síndrome de ectrodactilia das mãos-disostose mandibulo-facial |
| pl | Zespół Pattersona, Stevensona i Fontaine'a | Rozszczep stopy - dyzostoza żuchwowo-twarzowa · Zespół Pattersona i Stevensona |
| cs | Pattersonův-Stevensonův-Fontaineův syndrom | Pattersonův-Stevensonův syndrom · Syndrom zahrnující rozštěp a deformity nohy a mandibulofaciální dysostózu · Patterson-Stevenson-Fontaineův syndrom · Patterson-Stevensonův syndrom |
| uk | Синдром Паттерсона-Стівенсона-Фонтена | Синдром Паттерсона-Стівенсона · Синдром деформації стопи та щелепно-лицьового дизостозу |
| zh | Patterson-Stevenson-Fontaine综合征 | 分裂足畸形-下颌骨颜面发育不全综合征 |
| tr | Patterson-Stevenson-Fontaine sendromu | Patterson-Stevenson sendromu · Bölünmüş ayak deformitesi-mandibulofasiyal dizostoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183700 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0008465 | E | validated | |
| UMLS | C5574964 | E | validated | |
| GARD | 4260 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 9098499[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9098499[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.
6
HPO phenotypes
12 annotations · validated 2025-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000175 | Cleft palate | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0005321 | Mandibulofacial dysostosis | |
| HP:0000347 | Micrognathia | |
| HP:0001839 | Split foot | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0000678 | Dental crowding | |
| HP:0000218 | High palate | |
| HP:0004467 | Preauricular pit | |
| HP:0000407 | Sensorineural hearing impairment | |
Annotation source: 9098499[PMID]_14234106[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2439
- This record as JSON: /data/d/2439.json