McKusick-Kaufman syndrome
ORPHA:2473Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)1
HP:0030010Hydrometrocolpos
Частый (30–79%)5
HP:0000028Cryptorchidism
HP:0000126Hydronephrosis
HP:0000807Glandular hypospadias
HP:0001162Postaxial hand polydactyly
HP:0100779Urogenital sinus anomaly
Периодический (5–29%)21
HP:0000003Multicystic kidney dysplasia
HP:0000175Cleft palate
HP:0000218High palate
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001830Postaxial foot polydactyly
HP:0002023Anal atresia
HP:0002251Aganglionic megacolon
HP:0004322Short stature
HP:0004383Hypoplastic left heart
HP:0004397Ectopic anus
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0008368Tarsal synostosis
HP:0012227Urethral stricture
Очень редкий (1–4%)1
HP:0008678Renal hypoplasia/aplasia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 90 | Worldwide | Case(s) |
| Prevalence at birth | 1-5 / 10 000 | 10 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)