Koolen-De Vries syndrome
ORPHA:96169Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Фенотипы (HPO)82
Очень частый (80–99%)19
HP:0009928Thick nasal alae
HP:0000232Everted lower lip vermilion
HP:0000276Long face
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000348High forehead
HP:0000396Overfolded helix
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
Частый (30–79%)29
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000164Abnormality of the dentition
HP:0000189Narrow palate
HP:0000486Strabismus
HP:0000648Optic atrophy
HP:0000691Microdontia
HP:0000750Delayed speech and language development
HP:0001166Arachnodactyly
HP:0001250Seizure
HP:0001382Joint hypermobility
HP:0001611Hypernasal speech
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001638Cardiomyopathy
HP:0001671Abnormal cardiac septum morphology
HP:0002119Ventriculomegaly
HP:0002465Poor speech
HP:0002705High, narrow palate
HP:0002827Hip dislocation
HP:0005599Hypopigmentation of hair
HP:0007099Chiari type I malformation
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008499High hypermetropia
HP:0008872Feeding difficulties in infancy
HP:0010719Abnormality of hair texture
HP:0030746Intraventricular hemorrhage
HP:0100025Overfriendliness
Периодический (5–29%)32
HP:0004322Short stature
HP:0007018Attention deficit hyperactivity disorder
HP:0008064Ichthyosis
HP:0025268Stuttering
HP:0100807Long fingers
HP:0000073Ureteral duplication
HP:0000075Renal duplication
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000405Conductive hearing impairment
HP:0000518Cataract
HP:0000668Hypodontia
HP:0000682Abnormality of dental enamel
HP:0000739Anxiety
HP:0000767Pectus excavatum
HP:0000821Hypothyroidism
HP:0000957Cafe-au-lait spot
HP:0000958Dry skin
HP:0000960Sacral dimple
HP:0001028Hemangioma
HP:0001054Numerous nevi
HP:0001601Laryngomalacia
HP:0001647Bicuspid aortic valve
HP:0001763Pes planus
HP:0002021Pyloric stenosis
HP:0002414Spina bifida
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002948Vertebral fusion
HP:0003422Vertebral segmentation defect
Очень редкий (1–4%)2
HP:0000403Recurrent otitis media
HP:0000407Sensorineural hearing impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)