ORPHA:1234
Bartsocas-Papas syndrome
Synonyms: Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bartsocas-Papas syndrome | Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome |
| fr | Syndrome de Bartsocas-Papas | Syndrome de la bride poplitée autosomique récessif · Syndrome des ptérygiums poplités autosomique récessif · Syndrome létal de la bride poplitée · Syndrome létal de ptérygiums poplités |
| de | Bartsocas-Papas-Syndrom | Popliteales Pterygium-Syndrom, autosomal-rezessives · Popliteales Pterygium-Syndrom, letaler Typ |
| es | Síndrome de Bartsocas-Papas | Síndrome de pterigium poplíteo autosómico recesivo · Síndrome de pterigium poplíteo letal |
| it | Sindrome di Bartsocas-Papas | Sindrome dello pterigio popliteo, autosomica recessiva · Sindrome letale dello pterigio popliteo |
| nl | Syndroom van Bartsocas-Papas | Autosomaal recessief popliteaal pterygium-syndroom · Letaal popliteaal pterygium-syndroom |
| pt | Síndrome Bartsocas-Papas | Síndrome pterígio poplíteo autossómico recessivo · Síndrome pterígio poplíteo tipo letal |
| pl | Dysplazja uszno-kostna Bartsocasa i Papasa | Autosomalny recesywny zespół płetwistości podkolanowych · Letalny zespół płetwistości podkolanowych |
| cs | Bartsocasův-Papasův syndrom | Syndrom letálního popliteálního pterygia · Syndrom autozomálně recesivního popliteálního pterygia · Bartsocas-Papasův syndrom |
| uk | Синдром Бартсокаса-Папаса | Аутосомно-рецесивний синдром підколінного птеригіуму · Летальний синдром підколінного птеригіуму |
| zh | Bartsocas-Papas综合征 | 常染色体隐性腘窝翼状赘蹼综合征 |
| tr | Bartsocas-Papas sendromu | Letal popliteal piterjiyum sendromu · Otozomal çekinik popliteal piterjiyum sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263650 | BTNT | validated | |
| OMIM | 619339 | BTNT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MeSH | C564874 | E | validated | |
| UMLS | C1849718 | E | validated | |
| GARD | 4436 | 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 (5):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:294963Popliteal pterygium syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79446Multiple pterygium syndrome, Aslan type moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RIPK4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:496 | ENSG00000183421 | 605706 | 21q22.3 | receptor interacting serine/threonine kinase 4 | 22197488[PMID]_22197489[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | Spain | Value and class | Validated | 1867261[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007418 | Alopecia totalis | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0009755 | Ankyloblepharon | |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000175 | Cleft palate | |
| HP:0006101 | Finger syndactyly | |
| HP:0000050 | Hypoplastic male external genitalia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000161 | Median cleft lip | |
| HP:0000252 | Microcephaly | |
| HP:0009756 | Popliteal pterygium | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0100240 | Synostosis of joints | |
| HP:0001883 | Talipes | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0009777 | Absent thumb | |
| HP:0007957 | Corneal opacity | |
| HP:0000625 | Eyelid coloboma | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0003196 | Short nose | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0008678 | Renal hypoplasia/aplasia | |
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/1234
- This record as JSON: /data/d/1234.json