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TARP syndrome
Disease 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.
ORPHA:2886
Classification level: Disorder- Synonym(s):
- 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
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Antenatal, Neonatal
- ICD-10: Q87.8
- ICD-11: LD2F.1Y
- OMIM: 311900
- UMLS: C1839463
- MeSH: C536942
- GARD: 10089
- MedDRA: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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