Orphanet: Lateral meningocele syndrome
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Lateral meningocele syndrome

Disease definition

A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.

ORPHA:2789

Classification level: Disorder
  • Synonym(s):
    • Lehman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 130720
  • UMLS: C0344487  C1851710
  • MeSH: -
  • GARD: 9873
  • MedDRA: -

Detailed information

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