Spondyloepiphyseal dysplasia tarda
ORPHA:93284DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)10
HP:0000926Platyspondyly
HP:0001508Failure to thrive
HP:0001552Barrel-shaped chest
HP:0002654Multiple epiphyseal dysplasia
HP:0003051Enlarged metaphyses
HP:0003088Premature osteoarthritis
HP:0003521Disproportionate short-trunk short stature
HP:0004594Hump-shaped mound of bone in central and posterior portions of vertebral endplate
HP:0005775Multiple skeletal anomalies
HP:0012771Increased arm span
Частый (30–79%)17
HP:0000470Short neck
HP:0001376Limitation of joint mobility
HP:0001386Joint swelling
HP:0002763Abnormal cartilage morphology
HP:0002829Arthralgia
HP:0002945Intervertebral space narrowing
HP:0003043Abnormality of the shoulder
HP:0003365Arthralgia of the hip
HP:0003418Back pain
HP:0003855Spurred metaphyses of the upper limbs
HP:0005086Knee osteoarthritis
HP:0008843Hip osteoarthritis
HP:0010656Abnormal epiphyseal ossification
HP:0011001Increased bone mineral density
HP:0030839Knee pain
HP:0100569Abnormally ossified vertebrae
HP:0100712Abnormal lumbar spine morphology
Периодический (5–29%)21
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0002812Coxa vara
HP:0002938Lumbar hyperlordosis
HP:0002942Thoracic kyphosis
HP:0002996Limited elbow movement
HP:0003311Hypoplasia of the odontoid process
HP:0003832Abnormality of the tibial plateaux
HP:0004586Biconcave vertebral bodies
HP:0004637Decreased cervical spine mobility
HP:0006233Osteoarthritis of the distal interphalangeal joint
HP:0006248Limited wrist movement
HP:0006467Limited shoulder movement
HP:0008812Flattened femoral head
HP:0009763Limb pain
HP:0010231Enlarged epiphyses of the phalanges of the hand
HP:0010575Dysplasia of the femoral head
HP:0025131Finger swelling
HP:0025263Stiff knee
HP:0040161Localized osteoporosis
HP:0100864Short femoral neck
Очень редкий (1–4%)1
HP:0003401Paresthesia
Исключён (0%)5
HP:0000175Cleft palate
HP:0000541Retinal detachment
HP:0002960Autoimmunity
HP:0012649Increased inflammatory response
HP:0100769Synovitis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)