Trisomy 1q syndrome
ORPHA:261344Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)42
Очень частый (80–99%)3
HP:0000369Low-set ears
HP:0000445Wide nose
HP:0005280Depressed nasal bridge
Частый (30–79%)12
HP:0000003Multicystic kidney dysplasia
HP:0000160Narrow mouth
HP:0000308Microretrognathia
HP:0000476Cystic hygroma
HP:0000528Anophthalmia
HP:0001166Arachnodactyly
HP:0001561Polyhydramnios
HP:0001833Long foot
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0010880Increased nuchal translucency
HP:0100490Camptodactyly of finger
Периодический (5–29%)27
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000062Ambiguous genitalia
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000356Abnormality of the outer ear
HP:0000494Downslanted palpebral fissures
HP:0000601Hypotelorism
HP:0000772Abnormal rib morphology
HP:0000776Congenital diaphragmatic hernia
HP:0001177Preaxial hand polydactyly
HP:0001274Agenesis of corpus callosum
HP:0001321Cerebellar hypoplasia
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001770Toe syndactyly
HP:0001789Hydrops fetalis
HP:0001800Hypoplastic toenails
HP:0002023Anal atresia
HP:0006610Wide intermamillary distance
HP:0008386Aplasia/Hypoplasia of the nails
HP:0008676Congenital megaureter
HP:0010306Short thorax
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)