Phenotypes associated with the disease Lower limb malformation-hypospadias syndrome (ORPHA:2487):
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- 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:2487)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2487)
- 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: Frequent (HP:0040282). (ORPHA:2487)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Abnormality of the spleen (HP:0001743): An abnormality of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2487)