Lateral meningocele syndrome

Orpha code: 2789OMIM code: 130720

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.

Disease data
Classification

Malformation syndrome

Synonyms
Lehman syndrome
Zespół Lehmana
ORPHA code
2789
OMIM code
130720
ICD10 code
Q87.5
ICD11 code
LA07.Y

No additional description.

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