49,XYYYY syndrome
ORPHA:99330Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)43
Очень частый (80–99%)36
HP:0000026Male hypogonadism
HP:0000027Azoospermia
HP:0000119Abnormality of the genitourinary system
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000708Atypical behavior
HP:0000744Low frustration tolerance
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0000771Gynecomastia
HP:0003241External genital hypoplasia
HP:0000837Increased circulating gonadotropin level
HP:0002750Delayed skeletal maturation
HP:0009237Short 5th finger
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001999Abnormal facial shape
HP:0002119Ventriculomegaly
HP:0002500Abnormal cerebral white matter morphology
HP:0002650Scoliosis
HP:0002788Recurrent upper respiratory tract infections
HP:0002967Cubitus valgus
HP:0002974Radioulnar synostosis
HP:0003782Eunuchoid habitus
HP:0003946Abnormality of the epiphyses of the elbow
HP:0004237Large carpal bones
HP:0008193Primary gonadal insufficiency
HP:0008734Decreased testicular size
HP:0011310Bridged palmar crease
HP:0011343Moderate global developmental delay
HP:0040019Finger clinodactyly
HP:0040171Decreased serum testosterone concentration
HP:0045058Abnormality of the testis size
HP:0100710Impulsivity
HP:0000358Posteriorly rotated ears
Периодический (5–29%)7
HP:0000243Trigonocephaly
HP:0000262Turricephaly
HP:0000394Lop ear
HP:0000519Developmental cataract
HP:0001176Large hands
HP:0002761Generalized joint laxity
HP:0100559Lower limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)