Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
ORPHA:453499Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)71
Очень частый (80–99%)13
HP:0000119Abnormality of the genitourinary system
HP:0000126Hydronephrosis
HP:0000276Long face
HP:0000280Coarse facial features
HP:0000431Wide nasal bridge
HP:0000637Long palpebral fissure
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001627Abnormal heart morphology
HP:0002465Poor speech
HP:0011039Abnormality of the helix
Частый (30–79%)29
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000175Cleft palate
HP:0000194Open mouth
HP:0000218High palate
HP:0000221Furrowed tongue
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000508Ptosis
HP:0000586Shallow orbits
HP:0001315Reduced tendon reflexes
HP:0001363Craniosynostosis
HP:0001385Hip dysplasia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0001883Talipes
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002579Gastrointestinal dysmotility
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0003186Inverted nipples
HP:0003422Vertebral segmentation defect
HP:0005487Prominent metopic ridge
HP:0010880Increased nuchal translucency
HP:0012332Abnormal autonomic nervous system physiology
Периодический (5–29%)28
HP:0000158Macroglossia
HP:0000193Bifid uvula
HP:0000476Cystic hygroma
HP:0000589Coloboma
HP:0000666Horizontal nystagmus
HP:0000677Oligodontia
HP:0000821Hypothyroidism
HP:0000938Osteopenia
HP:0001250Seizure
HP:0001284Areflexia
HP:0001324Muscle weakness
HP:0001357Plagiocephaly
HP:0001631Atrial septal defect
HP:0001647Bicuspid aortic valve
HP:0001954Recurrent fever
HP:0002046Heat intolerance
HP:0002202Pleural effusion
HP:0002282Gray matter heterotopia
HP:0003396Syringomyelia
HP:0003763Bruxism
HP:0004467Preauricular pit
HP:0004970Ascending tubular aorta aneurysm
HP:0006695Atrioventricular canal defect
HP:0007328Impaired pain sensation
HP:0007550Hypohidrosis or hyperhidrosis
HP:0009794Branchial anomaly
HP:0011470Nasogastric tube feeding in infancy
HP:0025487Abnormality of bladder morphology
Очень редкий (1–4%)1
HP:0011024Abnormality of the gastrointestinal tract
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)