Juberg-Hayward syndrome
ORPHA:2319Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0000445Wide nose
HP:0001511Intrauterine growth retardation
HP:0003510Severe short stature
Частый (30–79%)19
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000202Orofacial cleft
HP:0000316Hypertelorism
HP:0000534Abnormal eyebrow morphology
HP:0000772Abnormal rib morphology
HP:0001167Abnormality of finger
HP:0001249Intellectual disability
HP:0001765Hammertoe
HP:0001770Toe syndactyly
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0002974Radioulnar synostosis
HP:0002984Hypoplasia of the radius
HP:0003019Abnormality of the wrist
HP:0003468Abnormal vertebral morphology
HP:0005916Abnormal metacarpal morphology
HP:0009778Short thumb
HP:0009811Abnormality of the elbow
Периодический (5–29%)3
HP:0000508Ptosis
HP:0001305Dandy-Walker malformation
HP:0001545Anteriorly placed anus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)