Spondylometaphyseal dysplasia, Kozlowski type
ORPHA:93314DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)5
HP:0000925Abnormality of the vertebral column
HP:0000926Platyspondyly
HP:0001510Growth delay
HP:0002663Delayed epiphyseal ossification
HP:0003521Disproportionate short-trunk short stature
Частый (30–79%)20
HP:0001156Brachydactyly
HP:0001248Short tubular bones of the hand
HP:0001288Gait disturbance
HP:0001498Carpal bone hypoplasia
HP:0001831Short toe
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002812Coxa vara
HP:0002867Abnormality of the ilium
HP:0002869Flared iliac wings
HP:0002970Genu varum
HP:0003016Metaphyseal widening
HP:0003088Premature osteoarthritis
HP:0003170Abnormality of the acetabulum
HP:0003177Squared iliac bones
HP:0003336Abnormal enchondral ossification
HP:0003510Severe short stature
HP:0005819Short middle phalanx of finger
HP:0009882Short distal phalanx of finger
HP:0010743Short metatarsal
Периодический (5–29%)20
HP:0000768Pectus carinatum
HP:0000914Shield chest
HP:0002808Kyphosis
HP:0002938Lumbar hyperlordosis
HP:0002942Thoracic kyphosis
HP:0002986Radial bowing
HP:0003059Abnormality of the radioulnar joints
HP:0003121Limb joint contracture
HP:0003180Flat acetabular roof
HP:0003185Short greater sciatic notch
HP:0003311Hypoplasia of the odontoid process
HP:0003417Coronal cleft vertebrae
HP:0003907Abnormality of the humeral metaphyses
HP:0004558Cervical platyspondyly
HP:0008422Vertebral wedging
HP:0010228Absent epiphyses of the phalanges of the hand
HP:0030289Flattened femoral epiphysis
HP:0030320Increased intervertebral space
HP:0100864Short femoral neck
HP:0001288Gait disturbance
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)