ORPHA:2886
TARP syndrome
Synonyms: Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome · Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TARP syndrome | Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome · Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome |
| fr | Syndrome TARP | Syndrome de Pierre Robin-malformations cardiaques-pieds bots · Syndrome de séquence de Pierre Robin-malformations cardiaques-pieds bots |
| de | TARP-Syndrom | Pierre-Robin-Sequenz-kongenitaler Herzdefekt-Klumpfuß-Syndrom · Pierre-Robin-Syndrom-Kardiopathie-Klumpfuß-Syndrom · Talipes equinovarus-Atriumseptumdefekt-Robin-Sequenz-persistierende linke obere Hohlvene-Syndrom |
| es | Síndrome TARP | Síndrome de Pierre Robin-defecto congénito del corazón-pie zambo · Talipes equinovarus-defecto septal atrial-secuencia de Robin-persistencia de la vena cava superior izquierda |
| it | Sindrome TARP | Piedi torti equino-vari - difetto del setto atriale - sequenza di Pierre Robin - persistenza della vena cava superiore sinistra · Sequenza di Pierre Robin - cardiopatia congenita - piedi torti · Sindrome di Pierre Robin - cardiopatia congenita - piedi torti |
| nl | TARP-syndroom | Pierre Robin sequentie - congenitaal hartdefect - talipes-syndroom · Syndroom van Pierre Robin - congenitaal hartdefect - talipes-syndroom · Talipes equinovarus - atriumseptumdefect - Robin sequentie - persisterende linker vena cava superior-syndroom |
| pt | Síndrome TARP | Síndrome sequência Pierre-Robin-cardiopatia congénita-pés botos |
| pl | Zespół TARP | Sekwencja Pierre'a i Robina - wrodzona wada serca - stopa końsko-szpotawa · Stopa końsko-szpotawa - wada przegrody międzyprzedsionkowej - sekwencja Robina - przetrwała żyła główna górna lewa · Zespół Pierre'a i Robina - wrodzona wada serca - stopa końsko-szpotawa |
| cs | TARP syndrom | Syndrom zahrnující talipes equinovarus, defekt septa síní, Robinovu sekvenci a perzistentní levou horní dutou žílu · Syndrom zahrnující Pierre Robinovu sekvenci, vrozenou srdeční vadu a talipes · Syndrom zahrnující Pierre Robinův syndrom, vrozenou vadu srdce a talipes |
| uk | TARP-синдром | Синдром послідовності Пєра Робена - вроджена вада серця - таліпс · Синдром Пєра Робена - вроджена вада серця - синдром Таліпеса · Синдром Talipes equinovarus - дефекту міжпередсердної перегородки - послідовность Робена - персистенції лівої верхньої порожнистої вени |
| zh | TARP综合征 | 马蹄内翻足-房间隔缺损-Robin序列征-永存左上腔静脉综合征 |
| tr | TARP sendromu | Pierre Robin dizisi-doğumsal kalp defekti-yumru ayak sendromu · Pierre Robin sendromu-doğumsal kalp defekti-yumru ayak sendromu · Talipes ekinovarus-atriyal septal defekt-Robin dizisi-sol süperior vena kava sendromunun kalıcılığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311900 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010711 | E | validated | |
| MeSH | C536942 | E | validated | |
| UMLS | C1839463 | E | validated | |
| GARD | 10089 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:363294Genetic syndromic Pierre Robin syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:138044Rare disease with Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBM10 | Disease-causing germline mutation(s) in | Assessed | HGNC:9896 | ENSG00000182872 | 300080 | Xp11.3 | RNA binding motif protein 10 | 21910224[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 24259342[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24259342,[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
55 annotations · validated 2019-07-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001631 | Atrial septal defect | Diagnostic criterion |
| HP:0005301 | Persistent left superior vena cava | Diagnostic criterion |
| HP:0000201 | Pierre-Robin sequence | Diagnostic criterion |
| HP:0001762 | Talipes equinovarus | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000961 | Cyanosis | |
| HP:0001508 | Failure to thrive | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000162 | Glossoptosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0001838 | Rocker bottom foot | |
| HP:0000340 | Sloping forehead | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000463 | Anteverted nares | |
| HP:0002104 | Apnea | |
| HP:0002136 | Broad-based gait | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0030084 | Clinodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0006101 | Finger syndactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000126 | Hydronephrosis | |
| HP:0006434 | Hypoplasia of proximal radius | |
| HP:0000239 | Large fontanelles | |
| HP:0000545 | Myopia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000395 | Prominent antihelix | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000385 | Small earlobe | |
| HP:0000574 | Thick eyebrow | |
| HP:0004492 | Widely patent fontanelles and sutures | |
| Very rare (<4-1%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0002246 | Abnormality of the duodenum | |
| HP:0009085 | Alveolar ridge overgrowth | |
| HP:0011445 | Athetoid cerebral palsy | |
| HP:0000648 | Optic atrophy | |
| HP:0000767 | Pectus excavatum | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000879 | Short sternum | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000199 | Tongue nodules | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30450804[PMID]_30462380[PMID]_12794682[PMID]_20451169[PMID]_5410571[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2886
- This record as JSON: /data/d/2886.json