ORPHA:1252
Blepharonasofacial malformation syndrome
Synonyms: Pashayan syndrome · Pashayan-Pruzansky syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Childhood
- Status
- active
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharonasofacial malformation syndrome | Pashayan syndrome · Pashayan-Pruzansky syndrome |
| fr | Syndrome blépharo-naso-facial | Syndrome de Pashayan · Syndrome de Pashayan-Pruzansky |
| de | Blepharo-naso-faziales Syndrom | Pashayan-Prozansky-Syndrom · Pashayan-Syndrom |
| es | Síndrome de malformación bléfaro-naso-facial | Síndrome de Pashayan · Síndrome de Pashayan-Prozansky |
| it | Sindrome da malformazione blefaro-naso-facciale | Sindrome di Pashayan · Sindrome di Pashayan-Prozansky |
| nl | Blefaronasofaciale malformatie-syndroom | Syndroom van Pashayan · Syndroom van Pashayan-Prozansky |
| pt | Síndrome de malformação blefaro-naso-facial | |
| pl | Zespół malformacji powiekowo-nosowo-twarzowej | Zespół Pashayan · Zespół Pashayan i Prozansky'ego |
| cs | Blefaronazofaciální malformační syndrom | Pashayanův syndrom · Pashayanův-Pruzanského syndrom · Pashayan-Pruzanského syndrom |
| uk | Синдром блефароназофаціальних вад розвитку | Синдром Пашаяна · Синдром Пашаяна-Прузанського |
| zh | 睑鼻面畸形综合征 | Pashayan-Pruzansky综合征 |
| tr | Blefaronasofasiyal malformasyon sendromu | Pashayan sendromu · Pashayan-Pruzansky sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 110050 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0007200 | E | validated | |
| MeSH | C536303 | E | validated | |
| UMLS | C0796197 | E | validated | |
| GARD | 4238 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 10631920[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10631920[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0006101 | Finger syndactyly | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0000343 | Long philtrum | |
| HP:0000298 | Mask-like facies | |
| HP:0001582 | Redundant skin | |
| HP:0000506 | Telecanthus | |
| HP:0001072 | Thickened skin | |
| HP:0001304 | Torsion dystonia | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000175 | Cleft palate | |
| HP:0000286 | Epicanthus | |
| HP:0000365 | Hearing impairment | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0005338 | Sparse lateral eyebrow | |
| Occasional (29-5%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0002162 | Low posterior hairline | |
| HP:0000648 | Optic atrophy | |
| HP:0009804 | Tooth agenesis | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1252
- This record as JSON: /data/d/1252.json