Cooper-Jabs syndrome
ORPHA:1488Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)12
HP:0000248Brachycephaly
HP:0000272Malar flattening
HP:0000370Abnormality of the middle ear
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000463Anteverted nares
HP:0001249Intellectual disability
HP:0001545Anteriorly placed anus
HP:0001629Ventricular septal defect
HP:0002007Frontal bossing
HP:0009623Proximal placement of thumb
HP:0000358Posteriorly rotated ears
Частый (30–79%)14
HP:0000486Strabismus
HP:0000772Abnormal rib morphology
HP:0000776Congenital diaphragmatic hernia
HP:0000921Missing ribs
HP:0001252Hypotonia
HP:0001537Umbilical hernia
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0003272Abnormality of the hip bone
HP:0004322Short stature
HP:0004349Reduced bone mineral density
HP:0007477Abnormal dermatoglyphics
HP:0100490Camptodactyly of finger
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)