Richieri Costa-da Silva syndrome
ORPHA:3101Malformation syndromeChildhood
Фенотипы (HPO)36
Очень частый (80–99%)8
HP:0000768Pectus carinatum
HP:0002187Intellectual disability, profound
HP:0002751Kyphoscoliosis
HP:0004322Short stature
HP:0006462Generalized bone demineralization
HP:0011964Intermittent painful muscle spasms
HP:0012899Handgrip myotonia
HP:0012903Myotonia of the upper limb
Частый (30–79%)8
HP:0001621Weak voice
HP:0002015Dysphagia
HP:0002527Falls
HP:0003712Skeletal muscle hypertrophy
HP:0005638Decreased anterioposterior diameter of lumbar vertebral bodies
HP:0008422Vertebral wedging
HP:0009053Distal lower limb muscle weakness
HP:0100288EMG: myokymic discharges
Периодический (5–29%)9
HP:0000565Esotropia
HP:0001265Hyporeflexia
HP:0001284Areflexia
HP:0001840Metatarsus adductus
HP:0002540Inability to walk
HP:0002857Genu valgum
HP:0003199Decreased muscle mass
HP:0004568Beaking of vertebral bodies
HP:0007156Asymmetric limb muscle stiffness
Исключён (0%)11
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000294Low anterior hairline
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000581Blepharophimosis
HP:0001373Joint dislocation
HP:0001376Limitation of joint mobility
HP:0001540Diastasis recti
HP:0001620Abnormally high-pitched voice
HP:0012368Flat face
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)