Smith-Lemli-Opitz syndrome
ORPHA:818Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)106
Очень частый (80–99%)16
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0002020Gastroesophageal reflux
HP:0004322Short stature
HP:00046912-3 toe syndactyly
HP:0006482Abnormal dental morphology
HP:0007477Abnormal dermatoglyphics
HP:0008872Feeding difficulties in infancy
HP:0010569Elevated 7-dehydrocholesterol
HP:0010880Increased nuchal translucency
Частый (30–79%)40
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000154Wide mouth
HP:0000175Cleft palate
HP:0000212Gingival overgrowth
HP:0000343Long philtrum
HP:0000470Short neck
HP:0000508Ptosis
HP:0000717Autism
HP:0000965Cutis marmorata
HP:0000992Cutaneous photosensitivity
HP:0000996Facial capillary hemangioma
HP:0001162Postaxial hand polydactyly
HP:0001262Excessive daytime somnolence
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0001600Abnormality of the larynx
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001830Postaxial foot polydactyly
HP:0002089Pulmonary hypoplasia
HP:0002101Abnormal lung lobation
HP:0002119Ventriculomegaly
HP:0002360Sleep abnormality
HP:0002719Recurrent infections
HP:0002777Tracheal stenosis
HP:0002827Hip dislocation
HP:0004422Biparietal narrowing
HP:0005916Abnormal metacarpal morphology
HP:0006610Wide intermamillary distance
HP:0006695Atrioventricular canal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008665Clitoral hypertrophy
HP:0008736Hypoplasia of penis
HP:0009623Proximal placement of thumb
HP:0030680Abnormal cardiovascular system morphology
HP:0100716Self-injurious behavior
HP:0000358Posteriorly rotated ears
Периодический (5–29%)50
HP:0000003Multicystic kidney dysplasia
HP:0000074Ureteropelvic junction obstruction
HP:0000126Hydronephrosis
HP:0000171Microglossia
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000453Choanal atresia
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000499Abnormal eyelash morphology
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000520Proptosis
HP:0000582Upslanted palpebral fissure
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0000647Sclerocornea
HP:0000648Optic atrophy
HP:0000682Abnormality of dental enamel
HP:0000772Abnormal rib morphology
HP:0000776Congenital diaphragmatic hernia
HP:0001156Brachydactyly
HP:0001171Split hand
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001360Holoprosencephaly
HP:0001543Gastroschisis
HP:0001643Patent ductus arteriosus
HP:0001884Talipes calcaneovalgus
HP:0002021Pyloric stenosis
HP:0002251Aganglionic megacolon
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003027Mesomelia
HP:0003312Abnormal form of the vertebral bodies
HP:0005264Abnormality of the gallbladder
HP:0005599Hypopigmentation of hair
HP:0006101Finger syndactyly
HP:0006288Advanced eruption of teeth
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0008678Renal hypoplasia/aplasia
HP:0008905Rhizomelia
HP:0009465Ulnar deviation of finger
HP:0009804Tooth agenesis
HP:0010297Bifid tongue
HP:0011069Supernumerary tooth
HP:0100542Abnormal localization of kidney
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.85 | Slovakia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.6 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.65 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-5 / 10 000 | — | Czech Republic | Class only |
| Annual incidence | 1-9 / 100 000 | 1.4314 | Korea, Republic of | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)