Léri-Weill dyschondrosteosis
ORPHA:240Malformation syndromeAutosomal dominantAdolescent, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)34
HP:0031095Abnormal humerus morphology
HP:0000431Wide nasal bridge
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001191Abnormal carpal morphology
HP:0001387Joint stiffness
HP:0001804Hypoplastic fingernail
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002818Abnormal morphology of the radius
HP:0002823Abnormality of femur morphology
HP:0002970Genu varum
HP:0002982Tibial bowing
HP:0002983Micromelia
HP:0002984Hypoplasia of the radius
HP:0002986Radial bowing
HP:0002992Abnormality of tibia morphology
HP:0003022Hypoplasia of the ulna
HP:0003027Mesomelia
HP:0003031Ulnar bowing
HP:0003067Madelung deformity
HP:0003272Abnormality of the hip bone
HP:0004209Clinodactyly of the 5th finger
HP:0005019Diaphyseal thickening
HP:0005280Depressed nasal bridge
HP:0005736Short tibia
HP:0005930Abnormality of epiphysis morphology
HP:0006248Limited wrist movement
HP:0006443Patellar aplasia
HP:0006459Dorsal subluxation of ulna
HP:0008873Disproportionate short-limb short stature
HP:0010579Cone-shaped epiphysis
HP:0010624Aplastic/hypoplastic toenail
HP:0040071Abnormal morphology of ulna
HP:0100777Exostoses
Частый (30–79%)3
HP:0002683Abnormality of the calvaria
HP:0002857Genu valgum
HP:0003042Elbow dislocation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)