Kyphomelic dysplasia
ORPHA:1801Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)9
HP:0000774Narrow chest
HP:0000907Anterior rib cupping
HP:0000944Abnormal metaphysis morphology
HP:0002983Micromelia
HP:0003312Abnormal form of the vertebral bodies
HP:0003498Disproportionate short stature
HP:0006487Bowing of the long bones
HP:0010306Short thorax
HP:0010561Undulate ribs
Частый (30–79%)7
HP:0000347Micrognathia
HP:0000895Lateral clavicle hook
HP:0000921Missing ribs
HP:0001376Limitation of joint mobility
HP:0001387Joint stiffness
HP:0003180Flat acetabular roof
HP:0012368Flat face
Периодический (5–29%)2
HP:0001176Large hands
HP:0001252Hypotonia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)