Lateral meningocele syndrome
ORPHA:2789Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)14
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000275Narrow face
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0002435Meningocele
HP:0002645Wormian bones
HP:0002705High, narrow palate
HP:0100775Dural ectasia
Частый (30–79%)13
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0000319Smooth philtrum
HP:0000470Short neck
HP:0000678Dental crowding
HP:0000767Pectus excavatum
HP:0001537Umbilical hernia
HP:0002162Low posterior hairline
HP:0002650Scoliosis
HP:0003312Abnormal form of the vertebral bodies
HP:0004452Abnormality of the middle ear ossicles
HP:0004493Craniofacial hyperostosis
HP:0005487Prominent metopic ridge
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000520Proptosis
HP:0000612Iris coloboma
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0002308Chiari malformation
HP:0002808Kyphosis
HP:0003307Hyperlordosis
HP:0003396Syringomyelia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | Worldwide | Case(s) |
| 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)