Spondyloepimetaphyseal dysplasia, Irapa type
ORPHA:93351DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)26
Очень частый (80–99%)20
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0001169Broad palm
HP:0001288Gait disturbance
HP:0001367Abnormal joint morphology
HP:0001376Limitation of joint mobility
HP:0001763Pes planus
HP:0001769Broad foot
HP:0002651Spondyloepimetaphyseal dysplasia
HP:0002758Osteoarthritis
HP:0002812Coxa vara
HP:0002829Arthralgia
HP:0002857Genu valgum
HP:0002983Micromelia
HP:0004279Short palm
HP:0005930Abnormality of epiphysis morphology
HP:0008873Disproportionate short-limb short stature
HP:0009824Upper limb undergrowth
Частый (30–79%)4
HP:0000939Osteoporosis
HP:0008839Hypoplastic pelvis
HP:0010049Short metacarpal
HP:0010743Short metatarsal
Периодический (5–29%)2
HP:0001191Abnormal carpal morphology
HP:0005048Synostosis of carpal bones
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)