White-Sutton syndrome
ORPHA:468678DiseaseAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)72
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)17
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000505Visual impairment
HP:0000540Hypermetropia
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001256Intellectual disability, mild
HP:0001513Obesity
HP:0001999Abnormal facial shape
HP:0002360Sleep abnormality
HP:0004322Short stature
HP:0006863Severe expressive language delay
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0011024Abnormality of the gastrointestinal tract
HP:0011968Feeding difficulties
Периодический (5–29%)20
HP:0000160Narrow mouth
HP:0000194Open mouth
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000307Pointed chin
HP:0000356Abnormality of the outer ear
HP:0000407Sensorineural hearing impairment
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000510Rod-cone dystrophy
HP:0000545Myopia
HP:0000718Aggressive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001344Absent speech
HP:0002020Gastroesophageal reflux
HP:0002353EEG abnormality
HP:0010864Intellectual disability, severe
HP:0011800Midface retrusion
HP:0012450Chronic constipation
Очень редкий (1–4%)33
HP:0002714Downturned corners of mouth
HP:0002870Obstructive sleep apnea
HP:0002933Ventral hernia
HP:0005280Depressed nasal bridge
HP:0012110Hypoplasia of the pons
HP:0012157Subcortical cerebral atrophy
HP:0012448Delayed myelination
HP:0100716Self-injurious behavior
HP:0000023Inguinal hernia
HP:0000081Duplicated collecting system
HP:0000218High palate
HP:0000272Malar flattening
HP:0000297Facial hypotonia
HP:0000322Short philtrum
HP:0000358Posteriorly rotated ears
HP:0000455Broad nasal tip
HP:0000470Short neck
HP:0000612Iris coloboma
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0000722Compulsive behaviors
HP:0000776Congenital diaphragmatic hernia
HP:0001045Vitiligo
HP:0001272Cerebellar atrophy
HP:0001382Joint hypermobility
HP:0001627Abnormal heart morphology
HP:0002079Hypoplasia of the corpus callosum
HP:0002120Cerebral cortical atrophy
HP:0002188Delayed CNS myelination
HP:0002280Enlarged cisterna magna
HP:0002311Incoordination
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002384Focal impaired awareness seizure
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)