Pseudoachondroplasia
ORPHA:750DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)2
HP:0001382Joint hypermobility
HP:0008873Disproportionate short-limb short stature
Частый (30–79%)20
HP:0000926Platyspondyly
HP:0001156Brachydactyly
HP:0002515Waddling gait
HP:0002663Delayed epiphyseal ossification
HP:0002758Osteoarthritis
HP:0002761Generalized joint laxity
HP:0002829Arthralgia
HP:0002938Lumbar hyperlordosis
HP:0003016Metaphyseal widening
HP:0003025Metaphyseal irregularity
HP:0003026Short long bone
HP:0003312Abnormal form of the vertebral bodies
HP:0005720Shortening of all metacarpals
HP:0006149Increased laxity of fingers
HP:0009803Short phalanx of finger
HP:0009826Limb undergrowth
HP:0010582Irregular epiphyses
HP:0020152Distal joint laxity
HP:0045086Knee joint hypermobility
HP:0100531Wind-swept deformity of the knees
Периодический (5–29%)21
HP:0001377Limited elbow extension
HP:0001387Joint stiffness
HP:0002650Scoliosis
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0003015Flared metaphysis
HP:0003090Hypoplasia of the capital femoral epiphysis
HP:0003093Limited hip extension
HP:0003180Flat acetabular roof
HP:0003756Skeletal myopathy
HP:0004236Irregular carpal bones
HP:0004568Beaking of vertebral bodies
HP:0006460Increased laxity of ankles
HP:0006499Abnormality of femoral epiphysis
HP:0008807Acetabular dysplasia
HP:0008833Irregular acetabular roof
HP:0008839Hypoplastic pelvis
HP:0009107Abnormal ossification involving the femoral head and neck
HP:0010579Cone-shaped epiphysis
HP:0010585Small epiphyses
HP:0100864Short femoral neck
Очень редкий (1–4%)2
HP:0003311Hypoplasia of the odontoid process
HP:0010646Cervical spine instability
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)