Apert syndrome
ORPHA:87Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)13
HP:0000244Brachyturricephaly
HP:0000327Hypoplasia of the maxilla
HP:0000337Broad forehead
HP:0000405Conductive hearing impairment
HP:0000520Proptosis
HP:0001363Craniosynostosis
HP:0001770Toe syndactyly
HP:0002007Frontal bossing
HP:0004440Coronal craniosynostosis
HP:0004487Acrobrachycephaly
HP:0005280Depressed nasal bridge
HP:0006101Finger syndactyly
HP:0012368Flat face
Частый (30–79%)24
HP:0011380Morphological abnormality of the semicircular canal
HP:0011800Midface retrusion
HP:0000189Narrow palate
HP:0000239Large fontanelles
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000444Convex nasal ridge
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000586Shallow orbits
HP:0000678Dental crowding
HP:0000684Delayed eruption of teeth
HP:0000689Dental malocclusion
HP:0000822Hypertension
HP:0000975Hyperhidrosis
HP:0001249Intellectual disability
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0003422Vertebral segmentation defect
HP:0004635Cervical vertebrae fusion (C5/C6)
HP:0008872Feeding difficulties in infancy
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0011304Broad thumb
Периодический (5–29%)22
HP:0000119Abnormality of the genitourinary system
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000238Hydrocephalus
HP:0000388Otitis media
HP:0000407Sensorineural hearing impairment
HP:0000453Choanal atresia
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0002032Esophageal atresia
HP:0002093Respiratory insufficiency
HP:0002119Ventriculomegaly
HP:0002308Chiari malformation
HP:0002676Cloverleaf skull
HP:0002983Micromelia
HP:0004397Ectopic anus
HP:0006536Airway obstruction
HP:0008404Nail dystrophy
HP:0012803Anisometropia
HP:0030680Abnormal cardiovascular system morphology
HP:0100702Arachnoid cyst
HP:0200020Corneal erosion
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.1 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.2 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.47 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.47 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)