Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
ORPHA:486815DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)4
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0007502Follicular hyperkeratosis
HP:0001382Joint hypermobility
Частый (30–79%)18
HP:0000218High palate
HP:0000467Neck muscle weakness
HP:0000767Pectus excavatum
HP:0000958Dry skin
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0002020Gastroesophageal reflux
HP:0002205Recurrent respiratory infections
HP:0002421Poor head control
HP:0002650Scoliosis
HP:0003306Spinal rigidity
HP:0003557Increased variability in muscle fiber diameter
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0003690Limb muscle weakness
HP:0003789Minicore myopathy
HP:0010647Abnormal elasticity of skin
HP:0011471Gastrostomy tube feeding in infancy
HP:0011968Feeding difficulties
Периодический (5–29%)8
HP:0000028Cryptorchidism
HP:0000750Delayed speech and language development
HP:0000823Delayed puberty
HP:0001612Weak cry
HP:0002828Multiple joint contractures
HP:0008081Pes valgus
HP:0008180Mildly elevated creatine kinase
HP:0025502Overweight
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)