Cerebellar-facial-dental syndrome
ORPHA:444072Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)11
HP:0000252Microcephaly
HP:0000675Macrodontia of permanent maxillary central incisor
HP:0000679Taurodontia
HP:0000689Dental malocclusion
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0001999Abnormal facial shape
HP:0002213Fine hair
HP:0002650Scoliosis
HP:0008070Sparse hair
HP:0045075Sparse eyebrow
Частый (30–79%)9
HP:0001256Intellectual disability, mild
HP:0001508Failure to thrive
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002280Enlarged cisterna magna
HP:0002465Poor speech
HP:0002750Delayed skeletal maturation
HP:0006511Laryngeal stridor
HP:0009085Alveolar ridge overgrowth
Периодический (5–29%)32
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000074Ureteropelvic junction obstruction
HP:0000126Hydronephrosis
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000486Strabismus
HP:0000518Cataract
HP:0000954Single transverse palmar crease
HP:0001182Tapered finger
HP:0001601Laryngomalacia
HP:0001629Ventricular septal defect
HP:0001634Mitral valve prolapse
HP:0002365Hypoplasia of the brainstem
HP:0002418Abnormality of midbrain morphology
HP:0002509Limb hypertonia
HP:0003100Slender long bone
HP:0003510Severe short stature
HP:0004970Ascending tubular aorta aneurysm
HP:0005135Abnormal T-wave
HP:0006970Periventricular leukomalacia
HP:0007068Inferior vermis hypoplasia
HP:0007835S-shaped palpebral fissures
HP:0008366Foot joint contracture
HP:0010864Intellectual disability, severe
HP:0011406Infancy onset short-trunk short stature
HP:0011800Midface retrusion
HP:0012110Hypoplasia of the pons
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Family(ies) |
| 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)