- 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: Obligate (HP:0040280). (ORPHA:228190)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:228190)
- Pseudocoarctation of the aorta (HP:0005295): Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:228190)
- Abnormal hand morphology (HP:0005922): Any structural anomaly of the hand. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:228190)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:228190)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:228190)
- Short digit (HP:0011927): One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:228190)
These phenotypes are associated with the disease Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome (ORPHA:228190).
The following phenotypes are NOT associated with this disease:
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. (ORPHA:228190)