Hand-foot-genital syndrome
ORPHA:2438Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)11
HP:0000074Ureteropelvic junction obstruction
HP:0000130Abnormality of the uterus
HP:0000813Bicornuate uterus
HP:0005048Synostosis of carpal bones
HP:0006110Shortening of all middle phalanges of the fingers
HP:0009623Proximal placement of thumb
HP:0009778Short thumb
HP:0009882Short distal phalanx of finger
HP:0010034Short 1st metacarpal
HP:0010105Short first metatarsal
HP:0010109Short hallux
Частый (30–79%)8
HP:0000010Recurrent urinary tract infections
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000795Abnormality of the urethra
HP:0004209Clinodactyly of the 5th finger
HP:0007477Abnormal dermatoglyphics
HP:0008080Hallux varus
HP:0011937Hypoplastic fifth toenail
Периодический (5–29%)6
HP:0000486Strabismus
HP:0000960Sacral dimple
HP:0001162Postaxial hand polydactyly
HP:0001629Ventricular septal defect
HP:0005268Spontaneous abortion
HP:0008551Microtia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 33 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)