CHIME syndrome
ORPHA:3474Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)21
HP:0000098Tall stature
HP:0000164Abnormality of the dentition
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000356Abnormality of the outer ear
HP:0000365Hearing impairment
HP:0000457Depressed nasal ridge
HP:0000480Retinal coloboma
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000668Hypodontia
HP:0000691Microdontia
HP:0001249Intellectual disability
HP:0006482Abnormal dental morphology
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0007477Abnormal dermatoglyphics
HP:0008064Ichthyosis
HP:0010783Erythema
HP:0012471Thick vermilion border
Частый (30–79%)14
HP:0000175Cleft palate
HP:0000582Upslanted palpebral fissure
HP:0001250Seizure
HP:0001636Tetralogy of Fallot
HP:0001669Transposition of the great arteries
HP:0001773Short foot
HP:0004279Short palm
HP:0005930Abnormality of epiphysis morphology
HP:0006660Aplastic clavicles
HP:0007957Corneal opacity
HP:0009767Aplasia/Hypoplasia of the phalanges of the hand
HP:0010173Aplasia/Hypoplasia of the phalanges of the toes
HP:0010882Pulmonary valve atresia
HP:0011069Supernumerary tooth
Периодический (5–29%)13
HP:0000077Abnormality of the kidney
HP:0000126Hydronephrosis
HP:0000717Autism
HP:0000962Hyperkeratosis
HP:0001629Ventricular septal defect
HP:0002120Cerebral cortical atrophy
HP:0002213Fine hair
HP:0002488Acute leukemia
HP:0002797Osteolysis
HP:0002827Hip dislocation
HP:0008070Sparse hair
HP:0100760Clubbing of toes
HP:0200042Skin ulcer
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)