LMNS
MCID: LTR009
MIFTS: 35

Lateral Meningocele Syndrome (LMNS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lateral Meningocele Syndrome

MalaCards integrated aliases for Lateral Meningocele Syndrome:

Name: Lateral Meningocele Syndrome 58 25 54 26 60 76 38 74
Lehman Syndrome 58 25 54 26 60 76 30 6
Lms 58 54 26 76
Lmns 58 76
Meningocele, Lateral Syndrome 41

Characteristics:

Orphanet epidemiological data:

60
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

33
lateral meningocele syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance appears to be complete but data are limited...

Classifications:



Summaries for Lateral Meningocele Syndrome

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

Related Diseases for Lateral Meningocele Syndrome

Diseases related to Lateral Meningocele Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 12.3
2 microcystic lymphatic malformation 11.3
3 laurence-moon syndrome 11.1
4 lenz-majewski hyperostotic dwarfism 11.1
5 lactose intolerance 11.1
6 spondyloenchondrodysplasia 10.6
7 meningocele 10.4
8 leiomyosarcoma 10.2
9 cerebrotendinous xanthomatosis 10.1
10 facial paralysis 10.1
11 lentigines 10.0
12 prostate cancer 10.0
13 neural tube defects 10.0
14 retinitis pigmentosa 10.0
15 neural tube defects, folate-sensitive 10.0
16 prostate cancer, hereditary, 8 10.0
17 body mass index quantitative trait locus 1 10.0
18 prostate cancer, hereditary, 6 10.0
19 blood group, junior system 10.0
20 sclerosing cholangitis, neonatal 10.0
21 testicular cancer 10.0
22 polymyositis 10.0
23 pierre robin syndrome 10.0
24 borjeson-forssman-lehmann syndrome 10.0
25 isolated pierre robin sequence 10.0
26 hajdu-cheney syndrome 9.9
27 acroosteolysis dominant type 9.9
28 adult syndrome 9.9
29 blood group--wright antigen 9.9
30 cleft palate, isolated 9.9
31 retinoblastoma 9.9
32 rheumatoid arthritis 9.9
33 disorganization, mouse, homolog of 9.9
34 insulin-like growth factor i 9.9
35 brittle bone disorder 9.9
36 gastrointestinal stromal tumor 9.9
37 anxiety 9.9
38 alpha-1-antitrypsin deficiency 9.9
39 burns 9.9
40 cataract 9.9
41 pancreas adenocarcinoma 9.9
42 atrial fibrillation 9.9
43 obstructive nephropathy 9.9
44 adenoid cystic carcinoma 9.9
45 japanese encephalitis 9.9
46 sarcoma 9.9
47 anus cancer 9.9
48 adenocarcinoma 9.9
49 complex regional pain syndrome 9.9
50 endometrial stromal sarcoma 9.9

Graphical network of the top 20 diseases related to Lateral Meningocele Syndrome:



Diseases related to Lateral Meningocele Syndrome

Symptoms & Phenotypes for Lateral Meningocele Syndrome

Human phenotypes related to Lateral Meningocele Syndrome:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
3 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
4 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
5 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
6 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
7 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
8 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
9 dural ectasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100775
10 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
11 meningocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0002435
12 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
13 atresia of the external auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0000413
14 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
15 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
16 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
17 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
18 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
19 craniofacial hyperostosis 60 33 frequent (33%) Frequent (79-30%) HP:0004493
20 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
21 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
22 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
23 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
24 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
25 dental crowding 60 33 frequent (33%) Frequent (79-30%) HP:0000678
26 abnormality of the middle ear ossicles 60 33 frequent (33%) Frequent (79-30%) HP:0004452
27 prominent metopic ridge 60 33 frequent (33%) Frequent (79-30%) HP:0005487
28 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
29 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
30 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
31 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
32 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
33 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
34 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
35 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
36 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
37 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
38 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
39 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
40 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396
41 bicuspid aortic valve 33 occasional (7.5%) HP:0001647
42 high palate 60 33 Occasional (29-5%) HP:0000218
43 coarse hair 33 HP:0002208
44 short stature 33 HP:0004322
45 long philtrum 33 HP:0000343
46 patent ductus arteriosus 33 HP:0001643
47 motor delay 33 HP:0001270
48 joint hypermobility 33 HP:0001382
49 platybasia 33 HP:0002691
50 vertebral fusion 33 HP:0002948

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
vertebral fusion
scalloping of vertebral bodies

Skin Nails Hair Hair:
coarse hair

Head And Neck Face:
micrognathia
malar hypoplasia
long, smooth philtrum

Head And Neck Head:
dolichocephaly

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
dural ectasia
arachnoid cyst
syringomyelia
delayed motor development
chiari i malformation
more
Muscle Soft Tissue:
hypotonia

Skeletal:
joint hyperextensibility

Skin Nails Hair Skin:
keloid formation

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive
malformed ossicles

Chest External Features:
pectus excavatum

Abdomen External Features:
inguinal hernia
umbilical hernia

Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
wormian bones
platybasia
sclerosis of the skull base

Head And Neck Teeth:
dental crowding

Head And Neck Nose:
short nasal bridge

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
bicuspid aortic valve (1 patient)

Voice:
high nasal voice

Clinical features from OMIM:

130720

Drugs & Therapeutics for Lateral Meningocele Syndrome

Search Clinical Trials , NIH Clinical Center for Lateral Meningocele Syndrome

Genetic Tests for Lateral Meningocele Syndrome

Genetic tests related to Lateral Meningocele Syndrome:

# Genetic test Affiliating Genes
1 Lehman Syndrome 30 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

42
Bone, Spinal Cord, Prostate, Skin, Pancreas, Thymus

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

(show all 13)
# Title Authors Year
1
The lateral meningocele syndrome mutation causes marked osteopenia in mice. ( 30042232 )
2018
2
Neurosurgical management in lateral meningocele syndrome: case report. ( 27911244 )
2017
3
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. ( 26754023 )
2016
4
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. ( 25394726 )
2015
5
Lehman syndrome: a new syndrome for pierre robin sequence. ( 23962060 )
2015
6
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. ( 24311540 )
2014
7
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. ( 23696373 )
2013
8
Hajdu-Cheney syndrome with severe dural ectasia. ( 21337686 )
2011
9
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. ( 21671395 )
2011
10
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). ( 16912705 )
2006
11
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. ( 15666314 )
2005
12
Lateral meningocele syndrome: three new patients and review of the literature. ( 9188658 )
1997
13
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. ( 8574426 )
1995

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH3 NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 GRCh37 Chromosome 19, 15302999: 15302999
2 NOTCH3 NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 GRCh38 Chromosome 19, 15192188: 15192188
3 NOTCH3 NM_000435.2(NOTCH3): c.6247A> T (p.Lys2083Ter) single nucleotide variant Pathogenic rs796065045 GRCh37 Chromosome 19, 15272192: 15272192
4 NOTCH3 NM_000435.2(NOTCH3): c.6247A> T (p.Lys2083Ter) single nucleotide variant Pathogenic rs796065045 GRCh38 Chromosome 19, 15161381: 15161381
5 NOTCH3 NM_000435.2(NOTCH3): c.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 GRCh38 Chromosome 19, 15160896: 15160896
6 NOTCH3 NM_000435.2(NOTCH3): c.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 GRCh37 Chromosome 19, 15271707: 15271707
7 NOTCH3 NM_000435.2(NOTCH3): c.6692dupC (p.Ala2233Glyfs) duplication Pathogenic rs773656789 GRCh38 Chromosome 19, 15160936: 15160936
8 NOTCH3 NM_000435.2(NOTCH3): c.6692dupC (p.Ala2233Glyfs) duplication Pathogenic rs773656789 GRCh37 Chromosome 19, 15271747: 15271747
9 NOTCH3 NM_000435.2(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 GRCh38 Chromosome 19, 15160965: 15160965
10 NOTCH3 NM_000435.2(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 GRCh37 Chromosome 19, 15271776: 15271776
11 NOTCH3 NM_000435.2(NOTCH3): c.6461_6486del26 (p.Gly2154Alafs) deletion Pathogenic rs869312909 GRCh38 Chromosome 19, 15161142: 15161167
12 NOTCH3 NM_000435.2(NOTCH3): c.6461_6486del26 (p.Gly2154Alafs) deletion Pathogenic rs869312909 GRCh37 Chromosome 19, 15271953: 15271978
13 NOTCH3 NM_000435.2(NOTCH3): c.6498_6577del80 (p.Ala2167Profs) deletion Pathogenic rs1555725043 GRCh38 Chromosome 19, 15161051: 15161130
14 NOTCH3 NM_000435.2(NOTCH3): c.6498_6577del80 (p.Ala2167Profs) deletion Pathogenic rs1555725043 GRCh37 Chromosome 19, 15271862: 15271941
15 NOTCH3 NM_000435.2(NOTCH3): c.1819C> T (p.Arg607Cys) single nucleotide variant Pathogenic/Likely pathogenic rs777751303 GRCh37 Chromosome 19, 15297937: 15297937
16 NOTCH3 NM_000435.2(NOTCH3): c.1819C> T (p.Arg607Cys) single nucleotide variant Pathogenic/Likely pathogenic rs777751303 GRCh38 Chromosome 19, 15187126: 15187126
17 NOTCH3 NM_000435.2(NOTCH3): c.3296G> A (p.Cys1099Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs1555727841 GRCh38 Chromosome 19, 15180103: 15180103
18 NOTCH3 NM_000435.2(NOTCH3): c.3296G> A (p.Cys1099Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs1555727841 GRCh37 Chromosome 19, 15290914: 15290914
19 NOTCH3 NM_000435.2(NOTCH3): c.1672C> T (p.Arg558Cys) single nucleotide variant Pathogenic rs75068032 GRCh37 Chromosome 19, 15298084: 15298084
20 NOTCH3 NM_000435.2(NOTCH3): c.1672C> T (p.Arg558Cys) single nucleotide variant Pathogenic rs75068032 GRCh38 Chromosome 19, 15187273: 15187273
21 NOTCH3 NM_000435.2(NOTCH3): c.619C> T (p.Arg207Cys) single nucleotide variant Pathogenic/Likely pathogenic rs775267348 GRCh38 Chromosome 19, 15192020: 15192020
22 NOTCH3 NM_000435.2(NOTCH3): c.619C> T (p.Arg207Cys) single nucleotide variant Pathogenic/Likely pathogenic rs775267348 GRCh37 Chromosome 19, 15302831: 15302831
23 NOTCH3 NM_000435.2(NOTCH3): c.437G> A (p.Cys146Tyr) single nucleotide variant Pathogenic rs1236699193 GRCh38 Chromosome 19, 15192202: 15192202
24 NOTCH3 NM_000435.2(NOTCH3): c.437G> A (p.Cys146Tyr) single nucleotide variant Pathogenic rs1236699193 GRCh37 Chromosome 19, 15303013: 15303013
25 NOTCH3 NM_000435.2(NOTCH3): c.1630C> T (p.Arg544Cys) single nucleotide variant Likely pathogenic rs201118034 GRCh37 Chromosome 19, 15298126: 15298126
26 NOTCH3 NM_000435.2(NOTCH3): c.1630C> T (p.Arg544Cys) single nucleotide variant Likely pathogenic rs201118034 GRCh38 Chromosome 19, 15187315: 15187315

Expression for Lateral Meningocele Syndrome

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

Pathways for Lateral Meningocele Syndrome

Pathways related to Lateral Meningocele Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Lateral Meningocele Syndrome

Sources for Lateral Meningocele Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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