Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
ORPHA:93360DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)5
HP:0001382Joint hypermobility
HP:0002652Skeletal dysplasia
HP:0002656Epiphyseal dysplasia
HP:0004322Short stature
HP:0011800Midface retrusion
Частый (30–79%)23
HP:0000926Platyspondyly
HP:0001238Slender finger
HP:0001518Small for gestational age
HP:0001602Laryngeal stenosis
HP:0001832Abnormal metatarsal morphology
HP:0002651Spondyloepimetaphyseal dysplasia
HP:0002663Delayed epiphyseal ossification
HP:0002761Generalized joint laxity
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0003025Metaphyseal irregularity
HP:0003088Premature osteoarthritis
HP:0006014Abnormally shaped carpal bones
HP:0006236Slender metacarpals
HP:0008755Laryngotracheomalacia
HP:0008857Neonatal short-trunk short stature
HP:0009815Aplasia/hypoplasia of the extremities
HP:0010674Abnormality of the curvature of the vertebral column
HP:0012095Multiple joint dislocation
HP:0012368Flat face
HP:0031367Metaphyseal striations
HP:0040064Abnormality of limbs
HP:0100168Fragmented epiphyses
Периодический (5–29%)13
HP:0000486Strabismus
HP:0001250Seizure
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0002808Kyphosis
HP:0002827Hip dislocation
HP:0002987Elbow flexion contracture
HP:0003048Radial head subluxation
HP:0003370Flat capital femoral epiphysis
HP:0004875Neonatal inspiratory stridor
HP:0005619Thoracolumbar kyphosis
HP:0006536Airway obstruction
HP:0030043Hip subluxation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)