ORPHA:1300
Autosomal dominant popliteal pterygium syndrome
Synonyms: Facio-genito-popliteal syndrome · Popliteal web syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant popliteal pterygium syndrome | Facio-genito-popliteal syndrome · Popliteal web syndrome |
| fr | Syndrome des ptérygiums poplités autosomique dominant | Syndrome de la bride poplitée · Syndrome facio-génito-poplité |
| de | Popliteales Pterygium-Syndrom, autosomal-dominantes | |
| es | Síndrome de pterigium poplíteo autosómico dominante | |
| it | Sindrome dello pterigio popliteo autosomica dominante | Sindrome della briglia poplitea |
| nl | Autosomaal dominant popliteaal pterygium-syndroom | Faciogenitopopliteaal syndroom · Popliteaal web-syndroom |
| pt | Síndrome pterígio poplíteo autossómico dominante | Síndrome teia poplítea |
| pl | Autosomalny dominujący zespół skrzydlik podkolanowych | Zespół płetwistości podkolanowej · Zespół twarzowo-płciowo-podkolanowy |
| cs | Syndrom popliteálních řas | Faciogenitopopliteální syndrom · Syndrom popliteálních blan · Autozomálně dominantní syndrom popliteálních pterygií |
| uk | Аутосомно-домінантний синдром підколінного птеригіуму | Лицьово-геніто-поплітеальний синдром · Синдром підколінної ямки |
| zh | 常染色体显性遗传腘翼综合征 | 面-生殖器-腘窝综合征 |
| tr | Otozomal dominant popliteal piterjiyum sendromu | Popliteal web sendromu · Fasiyo-genito-popliteal sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119500 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0007334 | E | validated | |
| UMLS | C5848052 | 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:294963Popliteal pterygium syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6121 | ENSG00000117595 | 607199 | 1q32.2 | interferon regulatory factor 6 | 20301581[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET_[EXPERT] |
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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001387 | Joint stiffness | |
| HP:0000347 | Micrognathia | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009755 | Ankyloblepharon | |
| HP:0000048 | Bifid scrotum | |
| HP:0000028 | Cryptorchidism | |
| HP:0009754 | Fibrous syngnathia | |
| HP:0006101 | Finger syndactyly | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0100267 | Lip pit | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0008288 | Nonketotic hyperglycinemia | |
| HP:0009756 | Popliteal pterygium | |
| HP:0002650 | Scoliosis | |
| HP:0000046 | Small scrotum | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000453 | Choanal atresia | |
| HP:0001328 | Specific learning disability | |
| HP:0001171 | Split hand | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1300
- This record as JSON: /data/d/1300.json