Kleefstra syndrome
ORPHA:261494Malformation syndromeAutosomal dominantNeonatal
Фенотипы (HPO)67
Очень частый (80–99%)12
HP:0000232Everted lower lip vermilion
HP:0000272Malar flattening
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0002263Exaggerated cupid's bow
HP:0003196Short nose
HP:0010804Tented upper lip vermilion
HP:0010864Intellectual disability, severe
Частый (30–79%)22
HP:0000158Macroglossia
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000337Broad forehead
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000391Thickened helices
HP:0000582Upslanted palpebral fissure
HP:0000664Synophrys
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000742Self-mutilation
HP:0001513Obesity
HP:0001629Ventricular septal defect
HP:0001647Bicuspid aortic valve
HP:0001680Coarctation of aorta
HP:0002019Constipation
HP:0002360Sleep abnormality
HP:0002553Highly arched eyebrow
HP:0011675Arrhythmia
Периодический (5–29%)33
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000107Renal cyst
HP:0000126Hydronephrosis
HP:0000324Facial asymmetry
HP:0000684Delayed eruption of teeth
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001376Limitation of joint mobility
HP:0001636Tetralogy of Fallot
HP:0001762Talipes equinovarus
HP:0002020Gastroesophageal reflux
HP:0002021Pyloric stenosis
HP:0002094Dyspnea
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002205Recurrent respiratory infections
HP:0002376Developmental regression
HP:0002558Supernumerary nipple
HP:0002607Bowel incontinence
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002779Tracheomalacia
HP:0004322Short stature
HP:0004415Pulmonary artery stenosis
HP:0006288Advanced eruption of teeth
HP:0008736Hypoplasia of penis
HP:0100716Self-injurious behavior
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 114 | 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)