Larsen syndrome
ORPHA:503Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)12
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0001156Brachydactyly
HP:0001799Short nail
HP:0005008Large joint dislocations
HP:0005280Depressed nasal bridge
HP:0009836Broad distal phalanx of finger
HP:0009882Short distal phalanx of finger
HP:0011220Prominent forehead
HP:0011304Broad thumb
HP:0012368Flat face
HP:0001382Joint hypermobility
Частый (30–79%)1
HP:0004232Accessory carpal bones
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000405Conductive hearing impairment
HP:0001249Intellectual disability
HP:0001363Craniosynostosis
HP:0001626Abnormality of the cardiovascular system
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0003319Abnormality of the cervical spine
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0006101Finger syndactyly
HP:0008755Laryngotracheomalacia
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)