Other Names for this Disease
- Pierre Robin syndrome with congenital heart malformation and clubfoot
- Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava
On this page
- Talipes equinovarus (clubfoot)
- Atrial septal defect (ASD) - a heart defect at birth characterized by failure of an opening of the upper heart chambers to close
- Robin sequence
- Persistence of the left superior vena cava (SVC).
Additional abnormalities that have been reported in the medical literature in affected individuals include failure to thrive; abnormal skull shape; round face; short palpebral fissures (decreased width of each eye); small or abnormally-shaped ears; poor muscle tone (hypotonia); developmental delay; eye or visual abnormalities; hearing loss; airway or lung abnormalities; undescended testicles (cryptorchidism); structural brain abnormalities; and intellectual disability.
Most affected males have died before birth or shortly after birth. However, in 2011 there was a report of an affected individual who was 3 years, 7 months old and was surviving with intensive medical care. The authors of this report concluded that long-term survival is possible for individuals with TARP syndrome and that older affected individuals may exist.
The Human Phenotype Ontology provides the following list of signs and symptoms for TARP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Johnston JJ. et. al. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. November 20, 2013; Epub ahead of print:Accessed 12/5/2013.
- Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. October 2011; 155A(10):2516-2520. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183328/. Accessed 12/5/2013.