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 53 23 49 24 55 71 36 69
Lehman Syndrome 53 23 49 24 55 71 28
Lms 53 49 24 71
Lmns 53 71

Characteristics:

Orphanet epidemiological data:

55
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
mutations occur de novo


HPO:

31
lateral meningocele syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance appears to be complete but data are limited...

Classifications:



Summaries for Lateral Meningocele Syndrome

OMIM : 53 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, and has symptoms including malar flattening, hypertelorism and low-set ears. 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.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

Wikipedia : 72 The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and... more...

GeneReviews: NBK368476

Related Diseases for Lateral Meningocele Syndrome

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:

53
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:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
3 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
5 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
6 high palate 55 31 Occasional (29-5%) HP:0000218
7 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
8 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
9 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
10 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
11 hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003307
12 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
13 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
14 craniofacial hyperostosis 55 31 frequent (33%) Frequent (79-30%) HP:0004493
15 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
16 smooth philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000319
17 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
18 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
19 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
20 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
21 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
22 wormian bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0002645
23 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
24 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 low posterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0002162
26 high, narrow palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002705
27 arnold-chiari malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002308
28 narrow face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000275
29 dental crowding 55 31 frequent (33%) Frequent (79-30%) HP:0000678
30 dural ectasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100775
31 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
32 meningocele 55 31 hallmark (90%) Very frequent (99-80%) HP:0002435
33 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
34 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
35 proptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000520
36 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
37 atresia of the external auditory canal 55 31 hallmark (90%) Very frequent (99-80%) HP:0000413
38 abnormality of the middle ear ossicles 55 31 frequent (33%) Frequent (79-30%) HP:0004452
39 prominent metopic ridge 55 31 frequent (33%) Frequent (79-30%) HP:0005487
40 posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000358
41 syringomyelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003396
42 coarse hair 31 HP:0002208
43 short stature 31 HP:0004322
44 long philtrum 31 HP:0000343
45 patent ductus arteriosus 31 HP:0001643
46 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
47 joint hypermobility 31 HP:0001382
48 platybasia 31 HP:0002691
49 vertebral fusion 31 HP:0002948
50 motor delay 31 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 28 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

38
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
# 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.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 GRCh38 Chromosome 19, 15160896: 15160896
3 NOTCH3 NM_000435.2(NOTCH3): c.6692dupC (p.Ala2233Glyfs) duplication Pathogenic rs773656789 GRCh38 Chromosome 19, 15160936: 15160936
4 NOTCH3 NM_000435.2(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 GRCh38 Chromosome 19, 15160965: 15160965
5 NOTCH3 NM_000435.2(NOTCH3): c.6461_6486del26 (p.Gly2154Alafs) deletion Pathogenic rs869312909 GRCh38 Chromosome 19, 15161142: 15161167
6 NOTCH3 NM_000435.2(NOTCH3): c.6498_6577del80 (p.Ala2167Profs) deletion Pathogenic GRCh38 Chromosome 19, 15161051: 15161130

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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