Pai syndrome
Synonyms: Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pai syndrome | Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome |
| fr | Syndrome de Pai | Syndrome de fente médiane de la lèvre supérieure-lipome du corps calleux-polypes cutanés médiane de la face |
| de | Pai-Syndrom | Mediane Oberlippenspalte-Corpus-callosum-Lipom-kutane Gesichtspolypen der Mittellinie-Syndrom |
| es | Síndrome de Pai | Síndrome de hendidura media del labio superior-lipoma del cuerpo calloso-pólipos cutáneos en la línea media |
| it | Sindrome di Pai | Schisi mediana del labbro superiore - lipoma del corpo calloso - polipi cutanei |
| nl | Syndroom van Pai | Mediaan gespleten bovenlip - lipoom van corpus callosum - faciale huidpoliepen op de middellijn-syndroom · Mediane schisis van bovenlip - lipoom van corpus callosum - faciale huidpoliepen op de middellijn-syndroom |
| pt | Síndrome Pai | Síndrome de fenda mediana do lábio superior-lipoma do corpo caloso-pólipos cutâneos |
| pl | Zespół Pai | Pośrodkowy rozszczep górnej wargi - tłuszczak ciała modzelowatego - polipy skórne |
| cs | Paiův syndrom | Syndrom zahrnující rozštěp horního rtu, lipom corporis callosi a kožní polyp |
| uk | Синдром Пая | Синдром серединної розщілини верхньої губи - ліпоми мозолистого тіла - шкірних поліпів середньої лінії обличчя |
| zh | Pai综合征 | 上唇人中区裂-胼胝体发育不良-面中线部位皮肤性息肉综合征 |
| tr | Pai sendromu | Üst dudağın medyan yarığı-korpus kallozum lipomu-orta hat fasiyal kutanöz polip sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155145 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007956 | E | validated | |
| MeSH | C536135 | E | validated | |
| UMLS | C1835087 | E | validated | |
| GARD | 3439 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 67 cases | Worldwide | Case(s) | Validated | 30195458[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30195458[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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000161 | Median cleft lip | |
| HP:0006866 | Midline central nervous system lipomas | |
| HP:0100582 | Nasal polyposis | |
| HP:0010609 | Skin tags | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0000193 | Bifid uvula | |
| HP:0000316 | Hypertelorism | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002084 | Encephalocele | |
| HP:0000612 | Iris coloboma | |
| HP:0004122 | Midline defect of the nose | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1993
- This record as JSON: /data/d/1993.json