8q24.3 microdeletion syndrome
ORPHA:508488Malformation syndromeNot applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)101
Очень частый (80–99%)3
HP:0001263Global developmental delay
HP:0002342Intellectual disability, moderate
HP:0004322Short stature
Частый (30–79%)25
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000319Smooth philtrum
HP:0000321Square face
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000729Autistic behavior
HP:0001155Abnormality of the hand
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001627Abnormal heart morphology
HP:0002474Expressive language delay
HP:0004209Clinodactyly of the 5th finger
HP:0004220Short middle phalanx of the 5th finger
HP:0007663Reduced visual acuity
HP:0008081Pes valgus
HP:0008872Feeding difficulties in infancy
HP:0010722Asymmetry of the ears
HP:0011470Nasogastric tube feeding in infancy
HP:0040019Finger clinodactyly
Периодический (5–29%)73
HP:0002983Micromelia
HP:0003097Short femur
HP:0003298Spina bifida occulta
HP:0005176Dysplastic aortic valve
HP:0005306Capillary hemangioma
HP:0005484Secondary microcephaly
HP:0006695Atrioventricular canal defect
HP:0007633Bilateral microphthalmos
HP:0009237Short 5th finger
HP:0009796Branchial cyst
HP:0010109Short hallux
HP:0010289Cleft maxillary alveolar ridge
HP:0010511Long toe
HP:0010529Echolalia
HP:0010609Skin tags
HP:0010733Naevus flammeus of the eyelid
HP:0011067Mesiodens
HP:0011220Prominent forehead
HP:0011332Hemifacial hypoplasia
HP:0011406Infancy onset short-trunk short stature
HP:0011755Ectopic posterior pituitary
HP:0012304Hypoplastic aortic arch
HP:0012584Bilateral renal hypoplasia
HP:0100033Tics
HP:0100807Long fingers
HP:3000038Abnormality of cricoid cartilage
HP:0000023Inguinal hernia
HP:0000076Vesicoureteral reflux
HP:0000077Abnormality of the kidney
HP:0000122Unilateral renal agenesis
HP:0000125Pelvic kidney
HP:0000300Oval face
HP:0000308Microretrognathia
HP:0000341Narrow forehead
HP:0000480Retinal coloboma
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000577Exotropia
HP:0000582Upslanted palpebral fissure
HP:0000609Optic nerve hypoplasia
HP:0000744Low frustration tolerance
HP:0000752Hyperactivity
HP:0000767Pectus excavatum
HP:0000774Narrow chest
HP:0000817Reduced eye contact
HP:0000891Cervical ribs
HP:0000954Single transverse palmar crease
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0001374Congenital hip dislocation
HP:0001385Hip dysplasia
HP:0001518Small for gestational age
HP:0001562Oligohydramnios
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001660Truncus arteriosus
HP:0001674Complete atrioventricular canal defect
HP:0001680Coarctation of aorta
HP:0001738Exocrine pancreatic insufficiency
HP:0001763Pes planus
HP:0001838Rocker bottom foot
HP:0001883Talipes
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002098Respiratory distress
HP:0002101Abnormal lung lobation
HP:0002239Gastrointestinal hemorrhage
HP:0002283Global brain atrophy
HP:0002553Highly arched eyebrow
HP:0002943Thoracic scoliosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)