Kniest dysplasia
ORPHA:485DiseaseAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Облигатный (100%)1
HP:0008271Abnormal cartilage collagen
Очень частый (80–99%)15
HP:0000311Round face
HP:0000520Proptosis
HP:0001367Abnormal joint morphology
HP:0001387Joint stiffness
HP:0001591Bell-shaped thorax
HP:0002663Delayed epiphyseal ossification
HP:0003037Enlarged joints
HP:0003330Abnormal bone structure
HP:0003498Disproportionate short stature
HP:0005280Depressed nasal bridge
HP:0007773Vitreoretinopathy
HP:0007964Degenerative vitreoretinopathy
HP:0011003High myopia
HP:0012069Keratan sulfate excretion in urine
HP:0012785Flexion contracture of finger
Частый (30–79%)19
HP:0000175Cleft palate
HP:0000365Hearing impairment
HP:0000541Retinal detachment
HP:0000926Platyspondyly
HP:0000947Dumbbell-shaped long bone
HP:0003016Metaphyseal widening
HP:0003026Short long bone
HP:0003040Arthropathy
HP:0003051Enlarged metaphyses
HP:0003311Hypoplasia of the odontoid process
HP:0003521Disproportionate short-trunk short stature
HP:0007992Lattice retinal degeneration
HP:0008063Aplasia/Hypoplasia of the lens
HP:0009815Aplasia/hypoplasia of the extremities
HP:0010306Short thorax
HP:0010574Abnormality of the epiphysis of the femoral head
HP:0010580Enlarged epiphyses
HP:0010646Cervical spine instability
HP:0012230Rhegmatogenous retinal detachment
Периодический (5–29%)12
HP:0000201Pierre-Robin sequence
HP:0000470Short neck
HP:0000518Cataract
HP:0001488Bilateral ptosis
HP:0002949Fused cervical vertebrae
HP:0003417Coronal cleft vertebrae
HP:0004557Anterior vertebral fusion
HP:0006375Dumbbell-shaped femur
HP:0006454Delayed patellar ossification
HP:0008422Vertebral wedging
HP:0012019Lens luxation
HP:0025474Erythematous plaque
Очень редкий (1–4%)4
HP:0000256Macrocephaly
HP:0002086Abnormality of the respiratory system
HP:0002176Spinal cord compression
HP:0008755Laryngotracheomalacia
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)