Myopathic Ehlers-Danlos syndrome
ORPHA:536516DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)2
HP:0001371Flexion contracture
HP:0001382Joint hypermobility
Частый (30–79%)5
HP:0001270Motor delay
HP:0003324Generalized muscle weakness
HP:0003557Increased variability in muscle fiber diameter
HP:0025335Delayed ability to stand
HP:0031936Delayed ability to walk
Периодический (5–29%)42
HP:0000347Micrognathia
HP:0000545Myopia
HP:0000592Blue sclerae
HP:0000767Pectus excavatum
HP:0000974Hyperextensible skin
HP:0000977Soft skin
HP:0000980Pallor
HP:0001058Poor wound healing
HP:0001181Adducted thumb
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0001284Areflexia
HP:0001319Neonatal hypotonia
HP:0001508Failure to thrive
HP:0001601Laryngomalacia
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002751Kyphoscoliosis
HP:0002803Congenital contracture
HP:0002808Kyphosis
HP:0002828Multiple joint contractures
HP:0002987Elbow flexion contracture
HP:0003044Shoulder flexion contracture
HP:0003199Decreased muscle mass
HP:0003307Hyperlordosis
HP:0003546Exercise intolerance
HP:0003701Proximal muscle weakness
HP:0005879Congenital finger flexion contractures
HP:0005988Congenital muscular torticollis
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0008180Mildly elevated creatine kinase
HP:0008366Foot joint contracture
HP:0008780Congenital bilateral hip dislocation
HP:0009473Joint contracture of the hand
HP:0010499Patellar subluxation
HP:0010862Delayed fine motor development
HP:0030051Tip-toe gait
HP:0030319Weakness of facial musculature
HP:0032152Keratosis pilaris
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)