has material basis in germline mutation in
RBM10
TARP syndrome
https://github.com/monarch-initiative/mondo/issues/4521
https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome
talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava
Pierre Robin syndrome with congenital heart malformation and clubfoot
Pierre Robin syndrome-congenital heart defect-talipes syndrome
UMLS:C1839463
SCTID:725911008
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.
talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Pierre Robin sequence - congenital heart defect - talipes
TARP syndrome, X-linked recessive
GARD:10089
DOID:0111780
Pierre Robin syndrome - congenital heart defect - talipes
MONDO:0010711
Pierre Robin sequence-congenital heart defect-talipes syndrome
OMIM:311900
tarp syndrome
TARPS
Orphanet:2886
MESH:C536942
talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava
obsolete syndrome or malformation associated with head and neck malformations
cardiogenetic disease