Phenotypes associated with the disease Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338):
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1338)
- 2-3 finger cutaneous syndactyly (HP:0001233): A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1338)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1338)
- Subvalvular aortic stenosis (HP:0001682): A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1338)
- Hamartoma of tongue (HP:0011802): A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1338)
- Benign neoplasm of the central nervous system (HP:0100835). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1338)