TARP syndrome
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.
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0100547
cardiogenetic disease
is_a
Pierre Robin sequence - congenital heart defect - talipes
related
Pierre Robin sequence-congenital heart defect-talipes syndrome
exact
Pierre Robin syndrome - congenital heart defect - talipes
related
Pierre Robin syndrome-congenital heart defect-talipes syndrome
exact
TARP syndrome, X-linked recessive
exact
TARPS
related
talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava
related
talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
exact
tarp syndrome
exact
SPAC57A7.13