Smith-Magenis syndrome
ORPHA:819Malformation syndromeAutosomal dominantAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)95
Очень частый (80–99%)31
HP:0000164Abnormality of the dentition
HP:0000248Brachycephaly
HP:0000337Broad forehead
HP:0000403Recurrent otitis media
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000664Synophrys
HP:0000679Taurodontia
HP:0000680Delayed eruption of primary teeth
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001513Obesity
HP:0001609Hoarse voice
HP:0002007Frontal bossing
HP:0002167Abnormality of speech or vocalization
HP:0002360Sleep abnormality
HP:0005280Depressed nasal bridge
HP:0005607Abnormal tracheobronchial morphology
HP:0007018Attention deficit hyperactivity disorder
HP:0010804Tented upper lip vermilion
HP:0011800Midface retrusion
HP:0012689Abnormal pineal melatonin secretion
HP:0100716Self-injurious behavior
HP:0100729Large face
Частый (30–79%)46
HP:0000194Open mouth
HP:0000220Velopharyngeal insufficiency
HP:0000280Coarse facial features
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000321Square face
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000463Anteverted nares
HP:0000482Microcornea
HP:0000486Strabismus
HP:0000545Myopia
HP:0001169Broad palm
HP:0001288Gait disturbance
HP:0001531Failure to thrive in infancy
HP:0001558Decreased fetal movement
HP:0001627Abnormal heart morphology
HP:0001763Pes planus
HP:0001770Toe syndactyly
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002119Ventriculomegaly
HP:0002155Hypertriglyceridemia
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0002788Recurrent upper respiratory tract infections
HP:0003124Hypercholesterolemia
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0006979Sleep-wake cycle disturbance
HP:0007328Impaired pain sensation
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008872Feeding difficulties in infancy
HP:0009830Peripheral neuropathy
HP:0010780Hyperacusis
HP:0025160Abnormal temper tantrums
HP:0030051Tip-toe gait
HP:0030680Abnormal cardiovascular system morphology
HP:0032041Vocal cord polyp
HP:0032508Polyembolokoilamania
HP:0032509Onychotillomania
HP:0100543Cognitive impairment
HP:0100710Impulsivity
HP:5200360Short rem sleep
Периодический (5–29%)18
HP:0000069Abnormality of the ureter
HP:0000119Abnormality of the genitourinary system
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000252Microcephaly
HP:0000541Retinal detachment
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0000826Precocious puberty
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001387Joint stiffness
HP:0002720Decreased circulating IgA level
HP:0008678Renal hypoplasia/aplasia
HP:0010535Sleep apnea
HP:0011675Arrhythmia
HP:0034819Iris nodule
HP:0100542Abnormal localization of kidney
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 4 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.35 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | — | United States | Class only |
| Point prevalence | 1-9 / 100 000 | 5.35 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)