Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
ORPHA:352665Etiological subtypeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)90
Очень частый (80–99%)2
HP:0000637Long palpebral fissure
HP:0001252Hypotonia
Частый (30–79%)26
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000158Macroglossia
HP:0000194Open mouth
HP:0000252Microcephaly
HP:0000276Long face
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000689Dental malocclusion
HP:0001363Craniosynostosis
HP:0001385Hip dysplasia
HP:0001510Growth delay
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0002282Gray matter heterotopia
HP:0002342Intellectual disability, moderate
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0002711Exaggerated median tongue furrow
HP:0002714Downturned corners of mouth
HP:0003763Bruxism
HP:0010864Intellectual disability, severe
HP:0010880Increased nuchal translucency
HP:0031936Delayed ability to walk
Периодический (5–29%)62
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000280Coarse facial features
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0000430Underdeveloped nasal alae
HP:0000476Cystic hygroma
HP:0000508Ptosis
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000586Shallow orbits
HP:0000587Abnormal optic nerve morphology
HP:0000589Coloboma
HP:0000609Optic nerve hypoplasia
HP:0000821Hypothyroidism
HP:0000938Osteopenia
HP:0000975Hyperhidrosis
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001284Areflexia
HP:0001315Reduced tendon reflexes
HP:0001324Muscle weakness
HP:0001382Joint hypermobility
HP:0001548Overgrowth
HP:0001631Atrial septal defect
HP:0001647Bicuspid aortic valve
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001954Recurrent fever
HP:0002019Constipation
HP:0002046Heat intolerance
HP:0002079Hypoplasia of the corpus callosum
HP:0002263Exaggerated cupid's bow
HP:0002558Supernumerary nipple
HP:0002572Episodic vomiting
HP:0002578Gastroparesis
HP:0002579Gastrointestinal dysmotility
HP:0002705High, narrow palate
HP:0002877Nocturnal hypoventilation
HP:0003186Inverted nipples
HP:0003388Easy fatigability
HP:0003422Vertebral segmentation defect
HP:0004389Intestinal pseudo-obstruction
HP:0004442Sagittal craniosynostosis
HP:0004443Lambdoidal craniosynostosis
HP:0004467Preauricular pit
HP:0004942Aortic aneurysm
HP:0005487Prominent metopic ridge
HP:0006481Abnormality of primary teeth
HP:0007328Impaired pain sensation
HP:0007655Eversion of lateral third of lower eyelids
HP:0008872Feeding difficulties in infancy
HP:0009794Branchial anomaly
HP:0009804Tooth agenesis
HP:0010297Bifid tongue
HP:0010807Open bite
HP:0011147Typical absence seizure
HP:0011330Metopic synostosis
HP:0011470Nasogastric tube feeding in infancy
HP:0011807Type 1 muscle fiber atrophy
HP:0100259Postaxial polydactyly
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)