Cerebrofaciothoracic dysplasia
ORPHA:1394Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)15
HP:0000154Wide mouth
HP:0000248Brachycephaly
HP:0000289Broad philtrum
HP:0000316Hypertelorism
HP:0000445Wide nose
HP:0000470Short neck
HP:0000574Thick eyebrow
HP:0000774Narrow chest
HP:0000892Bifid ribs
HP:0000902Rib fusion
HP:0001249Intellectual disability
HP:0002079Hypoplasia of the corpus callosum
HP:0002937Hemivertebrae
HP:0011800Midface retrusion
HP:0000358Posteriorly rotated ears
Частый (30–79%)18
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000664Synophrys
HP:0000912Sprengel anomaly
HP:0001320Cerebellar vermis hypoplasia
HP:0001561Polyhydramnios
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002162Low posterior hairline
HP:0002208Coarse hair
HP:0002650Scoliosis
HP:0003196Short nose
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0010720Abnormal hair pattern
HP:0100790Hernia
Периодический (5–29%)2
HP:0000175Cleft palate
HP:0000204Cleft upper lip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)