Mosaic trisomy 9 syndrome
ORPHA:99776Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)62
Очень частый (80–99%)5
HP:0000028Cryptorchidism
HP:0000369Low-set ears
HP:0000568Microphthalmia
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)16
HP:0000218High palate
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000414Bulbous nose
HP:0000470Short neck
HP:0001376Limitation of joint mobility
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001629Ventricular septal defect
HP:0001762Talipes equinovarus
HP:0001838Rocker bottom foot
HP:0002006Facial cleft
HP:0002827Hip dislocation
HP:0008736Hypoplasia of penis
HP:0012815Hypoplastic female external genitalia
HP:0040019Finger clinodactyly
Периодический (5–29%)41
HP:0000085Horseshoe kidney
HP:0000110Renal dysplasia
HP:0000126Hydronephrosis
HP:0000130Abnormality of the uterus
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000269Prominent occiput
HP:0000316Hypertelorism
HP:0000465Webbed neck
HP:0000476Cystic hygroma
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0001195Single umbilical artery
HP:0001305Dandy-Walker malformation
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001651Dextrocardia
HP:0001654Abnormal heart valve morphology
HP:0001706Endocardial fibroelastosis
HP:0001746Asplenia
HP:0001789Hydrops fetalis
HP:0001792Small nail
HP:0001869Deep plantar creases
HP:0002101Abnormal lung lobation
HP:0002119Ventriculomegaly
HP:0002414Spina bifida
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002937Hemivertebrae
HP:0002983Micromelia
HP:0003042Elbow dislocation
HP:0004422Biparietal narrowing
HP:0005562Multiple renal cysts
HP:0005815Supernumerary ribs
HP:0006191Deep palmar crease
HP:0007957Corneal opacity
HP:0011027Abnormality of the fallopian tube
HP:0100490Camptodactyly of finger
HP:0100752Abnormal liver lobulation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)