Spondyloepimetaphyseal dysplasia, Shohat type
ORPHA:93352DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Частый (30–79%)14
HP:0000926Platyspondyly
HP:0002650Scoliosis
HP:0002829Arthralgia
HP:0003015Flared metaphysis
HP:0003016Metaphyseal widening
HP:0003026Short long bone
HP:0003088Premature osteoarthritis
HP:0003468Abnormal vertebral morphology
HP:0003498Disproportionate short stature
HP:0003510Severe short stature
HP:0005257Thoracic hypoplasia
HP:0005930Abnormality of epiphysis morphology
HP:0006462Generalized bone demineralization
HP:0008463Central vertebral hypoplasia
Периодический (5–29%)19
HP:0000470Short neck
HP:0001433Hepatosplenomegaly
HP:0001602Laryngeal stenosis
HP:0001609Hoarse voice
HP:0002663Delayed epiphyseal ossification
HP:0002777Tracheal stenosis
HP:0002781Upper airway obstruction
HP:0002953Vertebral compression fracture
HP:0002970Genu varum
HP:0002979Bowing of the legs
HP:0003025Metaphyseal irregularity
HP:0003099Fibular overgrowth
HP:0003270Abdominal distention
HP:0003307Hyperlordosis
HP:0008418Squared-off platyspondyly
HP:0008450Narrow vertebral interpedicular distance
HP:0009826Limb undergrowth
HP:0025426Abnormal bronchus morphology
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)