LMNS
MCID: LTR009
MIFTS: 39

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 56 12 24 52 25 58 73 36 71
Lehman Syndrome 56 12 24 52 25 58 73 29 6
Lms 56 52 25 73
Lmns 56 73
Meningocele, Lateral Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
lateral meningocele syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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, eye and spinal cord, and related phenotypes are malar flattening and low-set ears

Disease Ontology : 12 An autosomal dominant disease characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has material basis in heterozygous mutation in NOTCH3 on chromosome 19p13.12.

OMIM : 56 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 : 36 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 : 73 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 : 74 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 125)
# Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 12.4
2 lenz-majewski hyperostotic dwarfism 11.9
3 capillary lymphangioma 11.4
4 laurence-moon syndrome 11.2
5 lactose intolerance 11.2
6 rare lymphatic malformation 11.2
7 meningocele 10.5
8 rapidly involuting congenital hemangioma 10.3
9 leiomyosarcoma 10.3
10 vaccinia 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 marfan syndrome 10.1
25 syringomyelia, noncommunicating isolated 10.1
26 scoliosis 10.1
27 hydrocephalus 10.1
28 syringomyelia 10.1
29 pierre robin syndrome 10.1
30 borjeson-forssman-lehmann syndrome 10.1
31 sleep apnea 10.1
32 hypermobile ehlers-danlos syndrome 10.1
33 isolated pierre robin sequence 10.1
34 adult syndrome 10.1
35 arteries, anomalies of 10.1
36 lentigines 10.1
37 hyperlipoproteinemia, type iii 10.1
38 coronary artery anomaly 10.1
39 ectodermal dysplasia 10.1
40 pulmonary tuberculosis 10.1
41 testicular cancer 10.1
42 lipid metabolism disorder 10.1
43 pancreatic adenocarcinoma 10.1
44 macular holes 10.1
45 intermediate coronary syndrome 10.1
46 cleft lip 10.1
47 stomatitis 10.1
48 cleft lip/palate 10.1
49 gastroesophageal reflux 9.9
50 aortic valve disease 1 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:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
6 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
7 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
8 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
9 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
10 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
11 dural ectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100775
12 meningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002435
13 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
14 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
15 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
16 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
17 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
18 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
19 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
20 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
21 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
22 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
23 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
24 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
25 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
26 abnormality of the middle ear ossicles 58 31 frequent (33%) Frequent (79-30%) HP:0004452
27 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
28 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
29 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
30 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
35 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
36 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
37 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
38 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
39 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
40 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
41 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
42 high palate 58 31 Occasional (29-5%) HP:0000218
43 short stature 31 HP:0004322
44 arnold-chiari type i malformation 31 HP:0007099
45 coarse hair 31 HP:0002208
46 long philtrum 31 HP:0000343
47 generalized hypotonia 31 HP:0001290
48 patent ductus arteriosus 31 HP:0001643
49 motor delay 31 HP:0001270
50 joint hypermobility 31 HP:0001382

Symptoms via clinical synopsis from OMIM:

56
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

Growth Height:
short stature

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

Head And Neck Head:
dolichocephaly

Skeletal Skull:
wormian bones
platybasia
sclerosis of the skull base

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

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
coarse hair

Cardiovascular Vascular:
patent ductus arteriosus

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

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

40
Bone, Eye, Spinal Cord, Heart, Skin, Smooth Muscle, Breast

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

(show all 36)
# Title Authors PMID Year
1
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 6 56 24 61
25394726 2015
2
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. 61 24 56 6
23696373 2013
3
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. 24 56 6 61
15666314 2005
4
Lateral meningocele syndrome: three new patients and review of the literature. 24 61 6 56
9188658 1997
5
Hajdu-Cheney syndrome with severe dural ectasia. 6 24 56
21337686 2011
6
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. 24 56 61
21671395 2011
7
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. 56 24 61
8574426 1995
8
Familial osteosclerosis with abnormalities of the nervous system and meninges. 56 24
830893 1977
9
Lateral Meningocele Syndrome 61 6
27336130 2016
10
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 24 61
26754023 2016
11
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. 24 61
24311540 2014
12
Primary empty sella turcica in children. Report of two familial cases. 56
229454 1979
13
Thoracic and lumbar dural ectasia in a two-year-old boy. 56
643353 1978
14
Differential Regulation of NOTCH2 and NOTCH3 Contribute to Their Unique Functions in Vascular Smooth Muscle Cells. 24
25957400 2015
15
Computed tomography (CT) findings in 88 neurofibromatosis 1 (NF1) patients: Prevalence rates and correlations of thoracic findings. 24
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. 24
25564152 2015
17
CADASIL and CARASIL. 24
25323668 2014
18
Mutations of NOTCH3 in childhood pulmonary arterial hypertension. 24
24936512 2014
19
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 24
23731542 2013
20
Surgical treatment of thoracic menigocele associated with neurofibromatosis and kyphoscoliosis. 24
22263195 2011
21
Notch3: from subtle structural differences to functional diversity. 24
18758477 2008
22
An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice. 61
31188489 2020
23
Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon. 61
31838470 2019
24
The lateral meningocele syndrome mutation causes marked osteopenia in mice. 61
30042232 2018
25
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders. 61
29979900 2018
26
The developmental biology of genetic Notch disorders. 61
28512196 2017
27
Neurosurgical management in lateral meningocele syndrome: case report. 61
27911244 2017
28
Lehman syndrome: a new syndrome for pierre robin sequence. 61
23962060 2015
29
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. 61
25821090 2015
30
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 61
22720776 2012
31
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. 61
23074680 2011
32
Syndromes, disorders and maternal risk factors associated with neural tube defects (II). 61
18400577 2008
33
Genetic obesity syndromes. 61
18230893 2008
34
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). 61
16912705 2006
35
Genetic analysis of testis weight and fertility in an interspecies hybrid congenic strain for Chromosome X. 61
11178743 2001
36
Transcription map of Xq27: candidates for several X-linked diseases. 61
10198160 1999

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH3 NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)SNV Pathogenic 208069 rs796065045 19:15272192-15272192 19:15161381-15161381
2 NOTCH3 NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)SNV Pathogenic 224882 rs869312910 19:15271707-15271707 19:15160896-15160896
3 NOTCH3 NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)duplication Pathogenic 224881 rs773656789 19:15271747-15271747 19:15160936-15160936
4 NOTCH3 NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)SNV Pathogenic 224883 rs869312911 19:15271776-15271776 19:15160965-15160965
5 NOTCH3 NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)deletion Pathogenic 224880 rs869312909 19:15271953-15271978 19:15161142-15161167
6 NOTCH3 NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs)deletion Pathogenic 236550 rs1555725043 19:15271862-15271941 19:15161051-15161130
7 NOTCH3 NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)SNV Pathogenic 447794 rs75068032 19:15298084-15298084 19:15187273-15187273
8 NOTCH3 NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)SNV Pathogenic 447849 rs1236699193 19:15303013-15303013 19:15192202-15192202
9 NOTCH3 NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs)duplication Pathogenic 694718 19:15271812-15271813 19:15161001-15161002
10 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)SNV Pathogenic/Likely pathogenic 546089 rs201118034 19:15298126-15298126 19:15187315-15187315
11 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)SNV Pathogenic/Likely pathogenic 447862 rs775267348 19:15302831-15302831 19:15192020-15192020
12 NOTCH3 NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)SNV Pathogenic/Likely pathogenic 374637 rs777751303 19:15297937-15297937 19:15187126-15187126
13 NOTCH3 NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)SNV Pathogenic/Likely pathogenic 447832 rs1555727841 19:15290914-15290914 19:15180103-15180103
14 NOTCH3 NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)SNV Uncertain significance 101050 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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....