Emanuel syndrome
ORPHA:96170Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)80
Очень частый (80–99%)1
HP:0001263Global developmental delay
Частый (30–79%)46
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000135Hypogonadism
HP:0000218High palate
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000384Preauricular skin tag
HP:0000400Macrotia
HP:0000403Recurrent otitis media
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000678Dental crowding
HP:0000684Delayed eruption of teeth
HP:0000692Tooth malposition
HP:0000750Delayed speech and language development
HP:0000789Infertility
HP:0001195Single umbilical artery
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0001374Congenital hip dislocation
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001642Pulmonic stenosis
HP:0001650Aortic valve stenosis
HP:0001660Truncus arteriosus
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002205Recurrent respiratory infections
HP:0002562Low-set nipples
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0002751Kyphoscoliosis
HP:0004397Ectopic anus
HP:0004467Preauricular pit
HP:0005815Supernumerary ribs
HP:0009765Low hanging columella
HP:0011968Feeding difficulties
HP:0012802Broad jaw
HP:0030820Hooded eyelid
Периодический (5–29%)33
HP:0000023Inguinal hernia
HP:0000089Renal hypoplasia
HP:0000122Unilateral renal agenesis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000483Astigmatism
HP:0000508Ptosis
HP:0000540Hypermetropia
HP:0000776Congenital diaphragmatic hernia
HP:0000960Sacral dimple
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001511Intrauterine growth retardation
HP:0001558Decreased fetal movement
HP:0001562Oligohydramnios
HP:0001622Premature birth
HP:0001623Breech presentation
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002023Anal atresia
HP:0002119Ventriculomegaly
HP:0002308Chiari malformation
HP:0002500Abnormal cerebral white matter morphology
HP:0002828Multiple joint contractures
HP:0003028Abnormality of the ankles
HP:0005401Recurrent candida infections
HP:0005989Redundant neck skin
HP:0009101Submucous cleft lip
HP:0012714Severe hearing impairment
HP:0012735Cough
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 350 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)