48,XXXY syndrome
ORPHA:96263Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)62
Очень частый (80–99%)7
HP:0000027Azoospermia
HP:0000135Hypogonadism
HP:0000789Infertility
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0002463Language impairment
HP:0008734Decreased testicular size
Частый (30–79%)29
HP:0001382Joint hypermobility
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000098Tall stature
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000389Chronic otitis media
HP:0000457Depressed nasal ridge
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
HP:0000670Carious teeth
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000717Autism
HP:0000771Gynecomastia
HP:0001252Hypotonia
HP:0001763Pes planus
HP:0002019Constipation
HP:0002099Asthma
HP:0002205Recurrent respiratory infections
HP:0002974Radioulnar synostosis
HP:0003042Elbow dislocation
HP:0004209Clinodactyly of the 5th finger
HP:0005930Abnormality of epiphysis morphology
HP:0007018Attention deficit hyperactivity disorder
HP:0008736Hypoplasia of penis
HP:0010807Open bite
HP:0200021Down-sloping shoulders
Периодический (5–29%)26
HP:0000718Aggressive behavior
HP:0000023Inguinal hernia
HP:0000110Renal dysplasia
HP:0000175Cleft palate
HP:0000248Brachycephaly
HP:0000303Mandibular prognathia
HP:0000324Facial asymmetry
HP:0000470Short neck
HP:0000581Blepharophimosis
HP:0000737Irritability
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001337Tremor
HP:0001513Obesity
HP:0001762Talipes equinovarus
HP:0002020Gastroesophageal reflux
HP:0002204Pulmonary embolism
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002827Hip dislocation
HP:0004936Venous thrombosis
HP:0005978Type II diabetes mellitus
HP:0012433Abnormal social behavior
HP:0030680Abnormal cardiovascular system morphology
HP:0100753Schizophrenia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)