Moebius syndrome
ORPHA:570DiseaseAutosomal dominantAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)42
Очень частый (80–99%)9
HP:0000194Open mouth
HP:0000298Mask-like facies
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000602Ophthalmoplegia
HP:0001608Abnormality of the voice
HP:0006824Cranial nerve paralysis
HP:0008872Feeding difficulties in infancy
HP:0010628Facial palsy
Частый (30–79%)8
HP:0000232Everted lower lip vermilion
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001762Talipes equinovarus
HP:0002015Dysphagia
HP:0007957Corneal opacity
HP:0009751Aplasia of the pectoralis major muscle
Периодический (5–29%)25
HP:0000044Hypogonadotropic hypogonadism
HP:0000175Cleft palate
HP:0000218High palate
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000498Blepharitis
HP:0000505Visual impairment
HP:0000691Microdontia
HP:0000717Autism
HP:0001522Death in infancy
HP:0002804Arthrogryposis multiplex congenita
HP:0003202Skeletal muscle atrophy
HP:0004050Absent hand
HP:0004209Clinodactyly of the 5th finger
HP:0004408Abnormality of the sense of smell
HP:0005914Aplasia/Hypoplasia involving the metacarpal bones
HP:0006101Finger syndactyly
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007565Multiple cafe-au-lait spots
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0009804Tooth agenesis
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0040071Abnormal morphology of ulna
HP:0100783Breast aplasia
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 100 000 | 0.3 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.12 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.27 | Italy | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.06 | Italy | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)