Spondyloepimetaphyseal dysplasia, Handigodu type
ORPHA:99642DiseaseAdolescent, Adult, Childhood
Фенотипы (HPO)29
Очень частый (80–99%)3
HP:0003365Arthralgia of the hip
HP:0008800Limited hip movement
HP:0008843Hip osteoarthritis
Частый (30–79%)13
HP:0001288Gait disturbance
HP:0000924Abnormality of the skeletal system
HP:0000925Abnormality of the vertebral column
HP:0000926Platyspondyly
HP:0002938Lumbar hyperlordosis
HP:0003179Protrusio acetabuli
HP:0003273Hip contracture
HP:0003521Disproportionate short-trunk short stature
HP:0004322Short stature
HP:0004594Hump-shaped mound of bone in central and posterior portions of vertebral endplate
HP:0009046Difficulty running
HP:0010575Dysplasia of the femoral head
HP:0030043Hip subluxation
Периодический (5–29%)13
HP:0001155Abnormality of the hand
HP:0001385Hip dysplasia
HP:0002515Waddling gait
HP:0002812Coxa vara
HP:0002815Abnormality of the knee
HP:0003510Severe short stature
HP:0004026Broad radial metaphysis
HP:0005108Abnormal intervertebral disk morphology
HP:0006387Wide distal femoral metaphysis
HP:0006429Broad femoral neck
HP:0008812Flattened femoral head
HP:0030839Knee pain
HP:0100864Short femoral neck
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 234 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)