Phenotypes associated with the disease Penoscrotal transposition (ORPHA:2842):
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Shawl scrotum (HP:0000049): Superior margin of the scrotum superior to the base of the penis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2842)
- Abnormality of the ureter (HP:0000069): An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2842)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2842)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Abnormality of the urethra (HP:0000795): An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Abnormal external genitalia morphology (HP:0000811): A structural anomaly of the external genitalia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- 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:2842)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2842)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Bilateral single transverse palmar creases (HP:0007598): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)
- Dimple chin (HP:0010751): A persistent midline depression of the skin over the fat pad of the chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2842)
- Penoscrotal transposition (HP:0100600): A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2842)