LMNS
MCID: LTR009
MIFTS: 37

Lateral Meningocele Syndrome (LMNS)

Categories: 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 57 24 53 25 59 74 37 72
Lehman Syndrome 57 24 53 25 59 74 29 6
Lms 57 53 25 74
Lmns 57 74
Meningocele, Lateral Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

32
lateral meningocele syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance appears to be complete but data are limited.

Classifications:



External Ids:

OMIM 57 130720
KEGG 37 H01893
MeSH 44 D008588
ICD10 via Orphanet 34 Q87.5
UMLS via Orphanet 73 C0344487 C1851710
Orphanet 59 ORPHA2789
MedGen 42 C1851710
UMLS 72 C1851710

Summaries for Lateral Meningocele Syndrome

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. The meningoceles associated with this disorder may damage the nerves that spread from the spine to the rest of the body. Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Prickling or tingling sensations (paresthesias), progressive stiffness and weakness in the legs (paraparesis), and back pain can also occur. Delayed development of motor skills in infancy, such as sitting and crawling, often occurs in this disorder; intelligence is usually unaffected. Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible) joints that can lead to dislocations, and protrusion of organs through gaps in muscles (hernias). Spinal abnormalities are also common, including side-to-side curvature of the spine (scoliosis), abnormal joining (fusion) of two or more vertebrae, and vertebrae that are unusually shaped (scalloped). People with lateral meningocele syndrome typically have a particular pattern of facial features that may include high arched eyebrows, widely spaced eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), and droopy eyelids (ptosis). Affected individuals may have a flat appearance of the middle of the face and cheekbones (midface and malar hypoplasia); low-set ears; a long area between the nose and mouth (long philtrum); a thin upper lip; a high, narrow roof of the mouth, occasionally with an abnormal opening (a cleft palate); a small jaw (micrognathia); coarse hair; and a low hairline at the back of the neck. Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids into the esophagus (called gastroesophageal reflux or GERD).

MalaCards based summary : Lateral Meningocele Syndrome, also known as lehman syndrome, is related to limb-mammary syndrome and lenz-majewski hyperostotic dwarfism. 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, heart and eye, and related phenotypes are malar flattening and low-set ears

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)

KEGG : 37
Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS.

UniProtKB/Swiss-Prot : 74 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 : 75 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 129)
# Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 12.4
2 lenz-majewski hyperostotic dwarfism 11.9
3 microcystic lymphatic malformation 11.4
4 laurence-moon syndrome 11.2
5 lactose intolerance 11.2
6 rare lymphatic malformation 11.2
7 meningocele 10.4
8 rapidly involuting congenital hemangioma 10.3
9 vaccinia 10.3
10 leiomyosarcoma 10.3
11 hypotonia 10.2
12 body mass index quantitative trait locus 1 10.2
13 pre-eclampsia 10.2
14 bell's palsy 10.2
15 hellp syndrome 10.2
16 facial paralysis 10.2
17 ciguatera fish poisoning 10.2
18 neural tube defects 10.1
19 split-hand/foot malformation 1 10.1
20 liver disease 10.1
21 herpes simplex 10.1
22 isolated split hand-split foot malformation 10.1
23 hajdu-cheney syndrome 10.1
24 scoliosis 10.1
25 acroosteolysis dominant type 10.1
26 pierre robin syndrome 10.1
27 borjeson-forssman-lehmann syndrome 10.1
28 sleep apnea 10.1
29 hypermobile ehlers-danlos syndrome 10.1
30 isolated pierre robin sequence 10.1
31 adult syndrome 10.1
32 lentigines 10.1
33 pulmonary alveolar microlithiasis 10.1
34 ectodermal dysplasia 10.1
35 pulmonary tuberculosis 10.1
36 testicular cancer 10.1
37 lipid metabolism disorder 10.1
38 pancreatic adenocarcinoma 10.1
39 intermediate coronary syndrome 10.1
40 cleft lip 10.1
41 stomatitis 10.1
42 cleft lip/palate 10.1
43 gastroesophageal reflux 9.9
44 aortic valve disease 1 9.9
45 cleft palate, isolated 9.9
46 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
47 endosteal hyperostosis, autosomal dominant 9.9
48 hypertelorism 9.9
49 keloid formation 9.9
50 marfan syndrome 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:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
6 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
7 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
8 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
9 dural ectasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100775
10 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
11 meningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002435
12 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
13 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
14 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
15 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
16 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
17 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
18 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
19 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
20 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
21 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
22 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
23 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
24 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
25 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
26 abnormality of the middle ear ossicles 59 32 frequent (33%) Frequent (79-30%) HP:0004452
27 prominent metopic ridge 59 32 frequent (33%) Frequent (79-30%) HP:0005487
28 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
29 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
30 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
31 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
32 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
33 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
34 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
35 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
36 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
37 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
38 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
39 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
40 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
41 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
42 high palate 59 32 Occasional (29-5%) HP:0000218
43 coarse hair 32 HP:0002208
44 short stature 32 HP:0004322
45 long philtrum 32 HP:0000343
46 generalized hypotonia 32 HP:0001290
47 patent ductus arteriosus 32 HP:0001643
48 motor delay 32 HP:0001270
49 joint hypermobility 32 HP:0001382
50 platybasia 32 HP:0002691

Symptoms via clinical synopsis from OMIM:

57
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

Cardiovascular Vascular:
patent ductus arteriosus

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

Head And Neck Head:
dolichocephaly

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 29 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

41
Bone, Heart, Eye, Spinal Cord, Skin, Breast, Smooth Muscle

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

(show all 35)
# Title Authors PMID Year
1
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 38 4 8 71
25394726 2015
2
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. 38 4 8 71
23696373 2013
3
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. 38 4 8 71
15666314 2005
4
Lateral meningocele syndrome: three new patients and review of the literature. 38 4 8 71
9188658 1997
5
Hajdu-Cheney syndrome with severe dural ectasia. 4 8 71
21337686 2011
6
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. 38 4 8
21671395 2011
7
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. 38 4 8
8574426 1995
8
Familial osteosclerosis with abnormalities of the nervous system and meninges. 4 8
830893 1977
9
Lateral Meningocele Syndrome 38 71
27336130 2016
10
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 38 4
26754023 2016
11
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. 38 4
24311540 2014
12
Primary empty sella turcica in children. Report of two familial cases. 8
229454 1979
13
Thoracic and lumbar dural ectasia in a two-year-old boy. 8
643353 1978
14
Differential Regulation of NOTCH2 and NOTCH3 Contribute to Their Unique Functions in Vascular Smooth Muscle Cells. 4
25957400 2015
15
Computed tomography (CT) findings in 88 neurofibromatosis 1 (NF1) patients: Prevalence rates and correlations of thoracic findings. 4
25802206 2015
16
PEST domain mutations in Notch receptors comprise an oncogenic driver segment in triple-negative breast cancer sensitive to a γ-secretase inhibitor. 4
25564152 2015
17
CADASIL and CARASIL. 4
25323668 2014
18
Mutations of NOTCH3 in childhood pulmonary arterial hypertension. 4
24936512 2014
19
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 4
23731542 2013
20
Surgical treatment of thoracic menigocele associated with neurofibromatosis and kyphoscoliosis. 4
22263195 2011
21
Notch3: from subtle structural differences to functional diversity. 4
18758477 2008
22
An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice. 38
31188489 2019
23
The lateral meningocele syndrome mutation causes marked osteopenia in mice. 38
30042232 2018
24
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders. 38
29979900 2018
25
The developmental biology of genetic Notch disorders. 38
28512196 2017
26
Neurosurgical management in lateral meningocele syndrome: case report. 38
27911244 2017
27
Lehman syndrome: a new syndrome for pierre robin sequence. 38
23962060 2015
28
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. 38
25821090 2015
29
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 38
22720776 2012
30
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. 38
23074680 2011
31
Syndromes, disorders and maternal risk factors associated with neural tube defects (II). 38
18400577 2008
32
Genetic obesity syndromes. 38
18230893 2008
33
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). 38
16912705 2006
34
Genetic analysis of testis weight and fertility in an interspecies hybrid congenic strain for Chromosome X. 38
11178743 2001
35
Transcription map of Xq27: candidates for several X-linked diseases. 38
10198160 1999

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH3 NM_000435.3(NOTCH3): c.1672C> T (p.Arg558Cys) single nucleotide variant Pathogenic rs75068032 19:15298084-15298084 19:15187273-15187273
2 NOTCH3 NM_000435.3(NOTCH3): c.6247A> T (p.Lys2083Ter) single nucleotide variant Pathogenic rs796065045 19:15272192-15272192 19:15161381-15161381
3 NOTCH3 NM_000435.3(NOTCH3): c.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 19:15271707-15271707 19:15160896-15160896
4 NOTCH3 NM_000435.3(NOTCH3): c.6692dup (p.Ala2233fs) duplication Pathogenic rs773656789 19:15271747-15271747 19:15160936-15160936
5 NOTCH3 NM_000435.3(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 19:15271776-15271776 19:15160965-15160965
6 NOTCH3 NM_000435.3(NOTCH3): c.6461_6486del (p.Gly2154fs) deletion Pathogenic rs869312909 19:15271953-15271978 19:15161142-15161167
7 NOTCH3 NM_000435.3(NOTCH3): c.6498_6577del (p.Ala2167fs) deletion Pathogenic rs1555725043 19:15271862-15271941 19:15161051-15161130
8 NOTCH3 NM_000435.3(NOTCH3): c.437G> A (p.Cys146Tyr) single nucleotide variant Pathogenic rs1236699193 19:15303013-15303013 19:15192202-15192202
9 NOTCH3 NM_000435.3(NOTCH3): c.1630C> T (p.Arg544Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201118034 19:15298126-15298126 19:15187315-15187315
10 NOTCH3 NM_000435.3(NOTCH3): c.619C> T (p.Arg207Cys) single nucleotide variant Pathogenic/Likely pathogenic rs775267348 19:15302831-15302831 19:15192020-15192020
11 NOTCH3 NM_000435.3(NOTCH3): c.1819C> T (p.Arg607Cys) single nucleotide variant Pathogenic/Likely pathogenic rs777751303 19:15297937-15297937 19:15187126-15187126
12 NOTCH3 NM_000435.3(NOTCH3): c.3296G> A (p.Cys1099Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs1555727841 19:15290914-15290914 19:15180103-15180103
13 NOTCH3 NM_000435.3(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 19:15302999-15302999 19:15192188-15192188

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:

37
# 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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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