Lateral Meningocele Syndrome (LMNS)

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OMIM 58 130720 KEGG 38 H01893 MeSH 45 D008588 ICD10 via Orphanet 35 Q87.5 UMLS via Orphanet 75 C0344487 C1851710

Orphanet 60 ORPHA2789 MedGen 43 C1851710 SNOMED-CT via HPO 70 111266001 111496009 113194005 11934000 12351004 171131006 18265008 194021007 199879009 204878001 22006008 224958001 237836003 246800008 249710008 253184003 253185002 253251006 253549006 263681008 27272007 298181000 30288003 32958008 33595009 391987005 396232000 396347007 398151007 398152000 414564002 44057004 48610005 60700002 61960001 64217002 699222000 72239002 72352009 83330001 86587003 95320005 95427009 95515009 more UMLS 74 C1851710

OMIM : ⁵⁸ 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 microcystic lymphatic malformation. An important gene associated with Lateral Meningocele Syndrome is NOTCH3 (Notch Receptor 3), and among its related pathways/superpathways is Notch signaling pathway. Affiliated tissues include bone, spinal cord and prostate, and related phenotypes are malar flattening and low-set ears

Genetics Home Reference : ²⁶ 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 : ⁷⁶ 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 : ⁷⁷ 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.