MCID: LTR009
MIFTS: 34

Lateral Meningocele Syndrome

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

Aliases & Classifications for Lateral Meningocele Syndrome

MalaCards integrated aliases for Lateral Meningocele Syndrome:

Name: Lateral Meningocele Syndrome 57 24 53 25 59 75 37 73
Lehman Syndrome 57 24 53 25 59 75 29 6
Lms 57 53 25 75
Lmns 57 75
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:



Summaries for Lateral Meningocele Syndrome

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

Related Diseases for Lateral Meningocele Syndrome

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 12.0
2 leiomyosarcoma 11.2
3 microcystic lymphatic malformation 11.0
4 lenz-majewski hyperostotic dwarfism 10.9
5 lactose intolerance 10.9
6 laurence-moon syndrome 10.9
7 microphthalmia, syndromic 1 10.9
8 meningocele 10.2
9 adult syndrome 9.9
10 neural tube defects 9.9
11 aging 9.9
12 neural tube defects, folate-sensitive 9.9
13 testicular cancer 9.9
14 pierre robin syndrome 9.9
15 hajdu-cheney syndrome 9.8
16 acroosteolysis dominant type 9.8
17 cleft palate, isolated 9.7
18 leiomyoma, uterine 9.7
19 insulin-like growth factor i 9.7
20 paine syndrome 9.7
21 brittle bone disorder 9.7
22 anxiety 9.7
23 adenoiditis 9.7
24 adenoid cystic carcinoma 9.7
25 sarcoma 9.7
26 leiomyoma 9.7
27 complex regional pain syndrome 9.7
28 endometrial stromal sarcoma 9.7
29 smooth muscle tumor 9.7
30 papular mucinosis 9.7
31 depression 9.7

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



Diseases related to Lateral Meningocele Syndrome

Symptoms & Phenotypes for Lateral Meningocele Syndrome

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

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
Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
short nasal bridge

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

Muscle Soft Tissue:
hypotonia

Skeletal:
joint hyperextensibility

Cardiovascular Heart:
bicuspid aortic valve (1 patient)

Voice:
high nasal voice


Clinical features from OMIM:

130720

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 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
5 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
6 high palate 59 32 Occasional (29-5%) HP:0000218
7 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
8 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
11 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
12 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
13 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
14 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
15 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
16 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
17 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
18 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
19 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
20 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
21 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
22 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
23 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
24 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
25 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
26 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
27 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
28 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
29 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
30 dural ectasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100775
31 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
32 meningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002435
33 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
34 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
35 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
36 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
37 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
38 abnormality of the middle ear ossicles 59 32 frequent (33%) Frequent (79-30%) HP:0004452
39 prominent metopic ridge 59 32 frequent (33%) Frequent (79-30%) HP:0005487
40 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
41 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
42 coarse hair 32 HP:0002208
43 short stature 32 HP:0004322
44 long philtrum 32 HP:0000343
45 patent ductus arteriosus 32 HP:0001643
46 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
47 joint hypermobility 32 HP:0001382
48 platybasia 32 HP:0002691
49 vertebral fusion 32 HP:0002948
50 motor delay 32 HP:0001270

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, Spinal Cord, Skin

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

# Title Authors Year
1
Neurosurgical management in lateral meningocele syndrome: case report. ( 27911244 )
2016
2
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. ( 25394726 )
2014
3
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. ( 24311540 )
2014
4
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. ( 23696373 )
2013
5
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. ( 21671395 )
2011
6
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. ( 15666314 )
2005
7
Lateral meningocele syndrome: three new patients and review of the literature. ( 9188658 )
1997
8
Lateral Meningocele Syndrome ( 27336130 )
1993

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH3 NM_000435.2(NOTCH3): c.6247A> T (p.Lys2083Ter) single nucleotide variant Pathogenic rs796065045 GRCh37 Chromosome 19, 15272192: 15272192
2 NOTCH3 NM_000435.2(NOTCH3): c.6247A> T (p.Lys2083Ter) single nucleotide variant Pathogenic rs796065045 GRCh38 Chromosome 19, 15161381: 15161381
3 NOTCH3 NM_000435.2(NOTCH3): c.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 GRCh38 Chromosome 19, 15160896: 15160896
4 NOTCH3 NM_000435.2(NOTCH3): c.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 GRCh37 Chromosome 19, 15271707: 15271707
5 NOTCH3 NM_000435.2(NOTCH3): c.6692dupC (p.Ala2233Glyfs) duplication Pathogenic rs773656789 GRCh38 Chromosome 19, 15160936: 15160936
6 NOTCH3 NM_000435.2(NOTCH3): c.6692dupC (p.Ala2233Glyfs) duplication Pathogenic rs773656789 GRCh37 Chromosome 19, 15271747: 15271747
7 NOTCH3 NM_000435.2(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 GRCh38 Chromosome 19, 15160965: 15160965
8 NOTCH3 NM_000435.2(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 GRCh37 Chromosome 19, 15271776: 15271776
9 NOTCH3 NM_000435.2(NOTCH3): c.6461_6486del26 (p.Gly2154Alafs) deletion Pathogenic rs869312909 GRCh38 Chromosome 19, 15161142: 15161167
10 NOTCH3 NM_000435.2(NOTCH3): c.6461_6486del26 (p.Gly2154Alafs) deletion Pathogenic rs869312909 GRCh37 Chromosome 19, 15271953: 15271978
11 NOTCH3 NM_000435.2(NOTCH3): c.6498_6577del80 (p.Ala2167Profs) deletion Pathogenic GRCh38 Chromosome 19, 15161051: 15161130
12 NOTCH3 NM_000435.2(NOTCH3): c.6498_6577del80 (p.Ala2167Profs) deletion Pathogenic GRCh37 Chromosome 19, 15271862: 15271941

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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