Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
ORPHA:2772Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)7
HP:0000252Microcephaly
HP:0000518Cataract
HP:0001511Intrauterine growth retardation
HP:0002757Recurrent fractures
HP:0002983Micromelia
HP:0008873Disproportionate short-limb short stature
HP:0000358Posteriorly rotated ears
Частый (30–79%)7
HP:0000316Hypertelorism
HP:0000592Blue sclerae
HP:0000772Abnormal rib morphology
HP:0001195Single umbilical artery
HP:0002119Ventriculomegaly
HP:0002269Abnormality of neuronal migration
HP:0005474Decreased calvarial ossification
Периодический (5–29%)7
HP:0000028Cryptorchidism
HP:0000062Ambiguous genitalia
HP:0001629Ventricular septal defect
HP:0004383Hypoplastic left heart
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008736Hypoplasia of penis
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)