Caudal regression syndrome
ORPHA:3027Malformation syndromeMultigenic/multifactorial, Not applicableAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)29
Очень частый (80–99%)9
HP:0002607Bowel incontinence
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0003199Decreased muscle mass
HP:0005640Abnormal vertebral segmentation and fusion
HP:0008479Hypoplastic vertebral bodies
HP:0008517Aplasia/Hypoplasia of the sacrum
HP:0009800Maternal diabetes
HP:0011867Abnormality of the wing of the ilium
HP:0100710Impulsivity
Частый (30–79%)11
HP:0000069Abnormality of the ureter
HP:0000073Ureteral duplication
HP:0000076Vesicoureteral reflux
HP:0000086Ectopic kidney
HP:0000104Renal agenesis
HP:0001315Reduced tendon reflexes
HP:0001387Joint stiffness
HP:0001762Talipes equinovarus
HP:0002023Anal atresia
HP:0002650Scoliosis
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)9
HP:0000028Cryptorchidism
HP:0000062Ambiguous genitalia
HP:0000083Renal insufficiency
HP:0000202Orofacial cleft
HP:0000822Hypertension
HP:0000921Missing ribs
HP:0002089Pulmonary hypoplasia
HP:0002139Arrhinencephaly
HP:0002308Chiari malformation
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.75 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)