TARP syndrome
Findings
No curated finding names TARP syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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 from the Mondo Disease Ontology (MONDO:0010711), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
62 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrial septal defectHPOHP:0001631
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Persistent left superior vena cavaHPOHP:0005301
- Very frequent (80% to 99% of cases)
- Pierre-Robin sequenceHPOHP:0000201
- Very frequent (80% to 99% of cases)
- Talipes equinovarusHPOHP:0001762
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:9896HGNC:9896
- Definitive · ClinGen · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · G2P · X-linked · 2015
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: TARP syndrome
- Also called
- Pierre Robin sequence-congenital heart defect-talipes syndromePierre Robin syndrome-congenital heart defect-talipes syndrometalipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndromeTARP syndrome, X-linked recessive