Phenotypes associated with the disease hand-foot-genital syndrome (OMIM:140000):
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 3/3. (PMID:17935235;PMID:12073020;PMID:15385446)
- Tethered cord (HP:0002144): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: PCS. Frequency: 1/1. (PMID:17935235)
- Abnormal scaphoid morphology (HP:0004243): Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb. Evidence: PCS. Frequency: 1/1. (PMID:15385446)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:140000)
- Hypoplastic fifth toenail (HP:0011937): Underdeveloped nails of the fifth toes. Evidence: PCS. Frequency: 1/1. (PMID:28947713)
- Chordee (HP:0000041): A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. Evidence: IEA. (OMIM:140000)
- Widened subarachnoid space (HP:0012704): An increase in size of the anatomic space between the arachnoid membrane and pia mater. Evidence: PCS. Frequency: 1/1. (PMID:36702441)
- Tarsometatarsal synostosis (HP:0100329). Evidence: PCS. Frequency: 1/1. (PMID:28947713)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 1/1. (PMID:15385446)
- Shortening of all middle phalanges of the fingers (HP:0006110): Short, hypoplastic middle phalanx of finger, affecting all fingers. Evidence: TAS. (OMIM:140000)
- Ulnar deviation of the 2nd finger (HP:0009464): Displacement of the 2nd (index) finger towards the ulnar side. Evidence: IEA. (OMIM:140000)
- Proximal placement of thumb (HP:0009623): Proximal mislocalization of the thumb. Evidence: PCS. Frequency: 1/1. (PMID:12073020)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: PCS. Frequency: 1/1. (PMID:15385446)
- Short 2nd toe (HP:0001885): Underdevelopment (hypoplasia) of the second toe. Evidence: TAS. (OMIM:140000)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 1/1. (PMID:17935235)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 2/2. (PMID:17935235)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: PCS. Frequency: 1/1. (PMID:17935235)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:140000)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 4/5. (PMID:17935235;PMID:28947713;PMID:24934387;PMID:15385446)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Uterus didelphys (HP:0003762): A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. Evidence: PCS. Frequency: 13/13. (PMID:36702441;PMID:9020844;PMID:28947713;PMID:15385446)
- Short distal phalanx of the 4th finger (HP:0009290): Hypoplastic/small distal phalanx of the fourth finger. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Tibial deviation of the 3rd toe (HP:0100343). Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- 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: PCS. Frequency: 11/11. (PMID:9020844;PMID:15385446)
- Tibial deviation of the 4th toe (HP:0100341). Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: PCS. Frequency: 2/2. (PMID:17935235;PMID:15385446)
- Absent hallux (HP:0012386): Aplasia of the hallux, that is, a development defect such that the big toe does not develop. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Clinodactyly of the 4th finger (HP:0040025). Evidence: PCS. Frequency: 1/1. (PMID:28947713)
- Glanular hypospadias (HP:0000807): A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. Evidence: PCS. Frequency: 1/1. (PMID:12073020)
- Tibial deviation of toes (HP:0100499). Evidence: PCS. Frequency: 3/3. (PMID:12073020;PMID:17935235;PMID:28947713)
- Broad proximal phalanx of the hallux (HP:0010086): Increased width of proximal phalanx of big toe. Evidence: PCS. Frequency: 1/1. (PMID:28947713)
- 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: PCS. Frequency: 5/5. (PMID:36702441;PMID:17935235;PMID:15385446)
- Short distal phalanx of toe (HP:0001857): Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. Evidence: PCS. Frequency: 1/1. (PMID:28947713)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:140000)
- 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: IEA. (OMIM:140000)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 5/5. (PMID:36702441;PMID:12073020;PMID:17935235;PMID:28947713)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. Frequency: 20/20. (PMID:36702441;PMID:9020844)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: IEA. (OMIM:140000)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/1. (PMID:36702441)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:17935235;PMID:12073020;PMID:24934387)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 11/11. (PMID:9020844;PMID:24934387)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: PCS. Frequency: 16/16. (PMID:36702441;PMID:9020844;PMID:17935235;PMID:12073020;PMID:28947713;PMID:15385446)
- Absent distal interphalangeal creases (HP:0001032): Absence of the distal interphalangeal flexion creases of the fingers. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 1/1. (PMID:15385446)
- Duplicate uterine cervix (HP:6000414): A congenital developmental defect characterized by the presence of two cervices on the uterus. Evidence: PCS. Frequency: 2/2. (PMID:17935235;PMID:28947713)
- Short distal phalanx of hallux (HP:0010103): Underdevelopment (hypoplasia) of the distal phalanx of big toe. Evidence: PCS. Frequency: 1/1. (PMID:15385446)
- Short distal phalanx of the 3rd finger (HP:0004180): Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Short first metatarsal (HP:0010105): Short first metatarsal bone. Evidence: IEA. (OMIM:140000)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: PCS. Frequency: 1/1. (PMID:15385446)
- Tibial deviation of the 5th toe (HP:0100347). Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 3/3. (PMID:24934387;PMID:15385446)
- Broad distal hallux (HP:0008111). Evidence: PCS. Frequency: 1/1. (PMID:36702441)
- 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: PCS. Frequency: 1/1. (PMID:28947713)
- Short distal phalanx of the 2nd finger (HP:0009566): Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Aplasia of the distal phalanx of the 5th finger (HP:0009246): Absence of the distal phalanx of the little (5th) finger. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 2/2. (PMID:36702441;PMID:28947713)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Abnormal ureter morphology (HP:0025633): A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: PCS. Frequency: 1/1. (PMID:36702441)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- 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: PCS. Frequency: 2/2. (PMID:17935235;PMID:28947713)
- Filum terminale lipoma (HP:6000184): Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris. Evidence: PCS. Frequency: 1/1. (PMID:17935235)
- Small thenar eminence (HP:0001245): Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. Evidence: PCS. Frequency: 1/1. (PMID:12073020)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 2/2. (PMID:17935235;PMID:24934387)
- Capitate-hamate fusion (HP:0001241). Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: PCS. Frequency: 2/2. (PMID:28947713;PMID:24934387)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: PCS. Frequency: 1/1. (PMID:36702441)
- Pseudoepiphyses (HP:0010584). Evidence: IEA. (OMIM:140000)
- Delayed tarsal ossification (HP:0008103): Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: IEA. (OMIM:140000)
- Longitudinal vaginal septum (HP:0008740): The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. Evidence: PCS. Frequency: 3/3. (PMID:17935235;PMID:28947713;PMID:15385446)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: PCS. Frequency: 3/3. (PMID:12073020;PMID:17935235;PMID:28947713)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: PCS. Frequency: 1/1. (PMID:12073020)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 2/2. (PMID:36702441;PMID:15385446)
- Short nail (HP:0001799): Decreased length of nail. Evidence: PCS. Frequency: 1/1. (PMID:24934387)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: PCS. Frequency: 2/2. (PMID:28947713;PMID:24934387)