CHARGE syndrome
ORPHA:138Malformation syndromeAutosomal dominant, UnknownAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)94
Очень частый (80–99%)16
HP:0000377Abnormal pinna morphology
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000054Micropenis
HP:0000359Abnormality of the inner ear
HP:0000365Hearing impairment
HP:0000396Overfolded helix
HP:0000458Anosmia
HP:0000589Coloboma
HP:0000612Iris coloboma
HP:0000823Delayed puberty
HP:0001263Global developmental delay
HP:0001291Abnormal cranial nerve morphology
HP:0008872Feeding difficulties in infancy
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0011382Hypoplasia of the semicircular canal
Частый (30–79%)38
HP:0000358Posteriorly rotated ears
HP:0000008Abnormal morphology of female internal genitalia
HP:0000048Bifid scrotum
HP:0000066Labial hypoplasia
HP:0000160Narrow mouth
HP:0000275Narrow face
HP:0000324Facial asymmetry
HP:0000453Choanal atresia
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000528Anophthalmia
HP:0000567Chorioretinal coloboma
HP:0000568Microphthalmia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000684Delayed eruption of teeth
HP:0000717Autism
HP:0000722Compulsive behaviors
HP:0000830Anterior hypopituitarism
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001561Polyhydramnios
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001646Abnormal aortic valve morphology
HP:0001671Abnormal cardiac septum morphology
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0004322Short stature
HP:0005113Dilatation of the aortic arch
HP:0005280Depressed nasal bridge
HP:0007018Attention deficit hyperactivity disorder
HP:0008897Postnatal growth retardation
HP:0010628Facial palsy
HP:0010751Chin dimple
HP:0011611Interrupted aortic arch
HP:0030680Abnormal cardiovascular system morphology
HP:0100736Abnormality of the soft palate
Периодический (5–29%)37
HP:0000076Vesicoureteral reflux
HP:0000085Horseshoe kidney
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000384Preauricular skin tag
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000625Eyelid coloboma
HP:0000632Lacrimation abnormality
HP:0000772Abnormal rib morphology
HP:0000834Abnormality of the adrenal glands
HP:0001156Brachydactyly
HP:0001305Dandy-Walker malformation
HP:0001360Holoprosencephaly
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001601Laryngomalacia
HP:0001883Talipes
HP:0002093Respiratory insufficiency
HP:0002410Aqueductal stenosis
HP:0002553Highly arched eyebrow
HP:0002575Tracheoesophageal fistula
HP:0002650Scoliosis
HP:0002937Hemivertebrae
HP:0002992Abnormality of tibia morphology
HP:0004209Clinodactyly of the 5th finger
HP:0004348Abnormality of bone mineral density
HP:0006824Cranial nerve paralysis
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008551Microtia
HP:0010443Bifid femur
HP:0010669Hypoplasia of the zygomatic bone
HP:0010978Abnormality of immune system physiology
Очень редкий (1–4%)3
HP:0000465Webbed neck
HP:0001539Omphalocele
HP:0010442Polydactyly
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.5 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 9 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)