Rubinstein-Taybi syndrome
ORPHA:783Malformation syndromeAutosomal dominant, UnknownAntenatal, Neonatal
Фенотипы (HPO)66
Очень частый (80–99%)17
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000444Convex nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
HP:0001531Failure to thrive in infancy
HP:0004322Short stature
HP:0008872Feeding difficulties in infancy
HP:0010059Broad hallux phalanx
HP:0011087Talon cusp
HP:0011304Broad thumb
Частый (30–79%)34
HP:0000028Cryptorchidism
HP:0000119Abnormality of the genitourinary system
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000579Nasolacrimal duct obstruction
HP:0000589Coloboma
HP:0000670Carious teeth
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000737Irritability
HP:0000739Anxiety
HP:0001273Abnormal corpus callosum morphology
HP:0001627Abnormal heart morphology
HP:0002019Constipation
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002230Generalized hirsutism
HP:0002553Highly arched eyebrow
HP:0002719Recurrent infections
HP:0004209Clinodactyly of the 5th finger
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
HP:0007018Attention deficit hyperactivity disorder
HP:0009832Abnormal distal phalanx morphology of finger
HP:0010535Sleep apnea
HP:0030434Pilomatrixoma
HP:0030680Abnormal cardiovascular system morphology
HP:0031087Absent pubertal growth spurt
HP:0100760Clubbing of toes
Периодический (5–29%)15
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000678Dental crowding
HP:0000987Atypical scarring of skin
HP:0001250Seizure
HP:0001385Hip dysplasia
HP:0001513Obesity
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0002308Chiari malformation
HP:0005306Capillary hemangioma
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006101Finger syndactyly
HP:0006530Abnormal pulmonary interstitial morphology
HP:0010562Keloids
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Netherlands | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | 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)