Cerebrocostomandibular syndrome
ORPHA:1393Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)5
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0001591Bell-shaped thorax
HP:0002643Neonatal respiratory distress
HP:0030282Posterior rib gap
Частый (30–79%)10
HP:0000162Glossoptosis
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0001522Death in infancy
HP:0002779Tracheomalacia
HP:0002808Kyphosis
HP:0004322Short stature
HP:0011968Feeding difficulties
Периодический (5–29%)12
HP:0000003Multicystic kidney dysplasia
HP:0000252Microcephaly
HP:0000465Webbed neck
HP:0001629Ventricular septal defect
HP:0002132Porencephaly
HP:0002324Hydranencephaly
HP:0002414Spina bifida
HP:0002435Meningocele
HP:0002475Myelomeningocele
HP:0002514Cerebral calcification
HP:0004209Clinodactyly of the 5th finger
HP:0010290Short hard palate
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 75 | 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)