loading...| Preferred Name |
TARP syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2886 |
| alternative_term |
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome |
| definition |
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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 |
| has_age_of_onset |
Antenatal Neonatal |
| hasDbXref |
MeSH:C536942 OMIM:311900 ICD-10:Q87.8 UMLS:C1839463 ICD-11:LD2F.1Y |
| label |
TARP syndrome |
| notation |
ORPHA:2886 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_363294 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
| prefixIRI |
ORDO:Orphanet_2886 |
| prefLabel |
TARP syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 6.0 (Family) |
| treeView |
http://www.orpha.net/ORDO/Orphanet_363294 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
| subClassOf |