Lateral Meningocele Syndrome

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OMIM 57 130720 Orphanet 59 ORPHA2789 UMLS via Orphanet 74 C0344487 C1851710 ICD10 via Orphanet 34 Q87.5 MedGen 42 C1851710

MeSH 44 D008588 KEGG 37 H01893 SNOMED-CT via HPO 69 263681008 396232000 204878001 27272007 72239002 194021007 22006008 32958008 253251006 95515009 44057004 60700002 95427009 246800008 11934000 18265008 12351004 699222000 391987005 199879009 95320005 398151007 398152000 224958001 298181000 396347007 253549006 30288003 83330001 72352009 48610005 253184003 171131006 113194005 111266001 64217002 86587003 414564002 249710008 61960001 111496009 237836003 253185002 33595009 more UMLS 73 C1851710

OMIM : ⁵⁷ Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015). (130720)

MalaCards based summary : Lateral Meningocele Syndrome, also known as lehman syndrome, is related to limb-mammary syndrome and leiomyosarcoma. An important gene associated with Lateral Meningocele Syndrome is NOTCH3 (Notch 3), and among its related pathways/superpathways is Notch signaling pathway. Affiliated tissues include bone, spinal cord and skin, and related phenotypes are malar flattening and hypertelorism

Genetics Home Reference : ²⁵ Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.

UniProtKB/Swiss-Prot : ⁷⁵ Lateral meningocele syndrome: A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.

Wikipedia : ⁷⁶ The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and... more...

GeneReviews: NBK368476

Clinical features from OMIM:

130720

Search Clinical Trials , NIH Clinical Center for Lateral Meningocele Syndrome

Search GEO for disease gene expression data for Lateral Meningocele Syndrome.