TARP syndrome

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.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 2

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PMID (PMCID)
30462380	OTHER
	First reported adult patient with TARP syndrome: A case report.
	Hojland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK. Am J Med Genet A. 2018;176(12):2915-2918.
	Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.
21910224 (3183328)	MALE
	Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
	Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Am J Med Genet A. 2011;155A(10):2516-20.
	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.