Sillence syndrome
ORPHA:3168Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)2
HP:0001156Brachydactyly
HP:0001761Pes cavus
Частый (30–79%)5
HP:0001840Metatarsus adductus
HP:0002650Scoliosis
HP:0003180Flat acetabular roof
HP:0005819Short middle phalanx of finger
HP:0010239Aplasia of the middle phalanx of the hand
Периодический (5–29%)19
HP:0008419Intervertebral disc degeneration
HP:0008818Large iliac wings
HP:0009381Short finger
HP:0009832Abnormal distal phalanx morphology of finger
HP:0009834Abnormal proximal phalanx morphology of the hand
HP:0010052Abnormality of the proximal phalanx of the hallux
HP:0011304Broad thumb
HP:0012385Camptodactyly
HP:0000286Epicanthus
HP:0000300Oval face
HP:0000926Platyspondyly
HP:0001533Slender build
HP:0001597Abnormality of the nail
HP:0001782Bulbous tips of toes
HP:0001783Broad metatarsal
HP:0003418Back pain
HP:0003468Abnormal vertebral morphology
HP:0004679Large tarsal bones
HP:0006170Chess-pawn distal phalanges
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)