Phenotypes associated with the disease Hand-foot-genital syndrome (ORPHA:2438):
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2438)
- 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: Frequent (HP:0040282). (ORPHA:2438)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2438)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2438)
- 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: Frequent (HP:0040282). (ORPHA:2438)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2438)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2438)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2438)
- 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: Frequent (HP:0040282). (ORPHA:2438)
- Synostosis of carpal bones (HP:0005048). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2438)
- Shortening of all middle phalanges of the fingers (HP:0006110): Short, hypoplastic middle phalanx of finger, affecting all fingers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Abnormal dermatoglyphics (HP:0007477): An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2438)
- Hallux varus (HP:0008080): Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2438)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2438)
- Proximal placement of thumb (HP:0009623): Proximal mislocalization of the thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Short first metatarsal (HP:0010105): Short first metatarsal bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2438)
- Hypoplastic fifth toenail (HP:0011937): Underdeveloped nails of the fifth toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2438)