MCID: LTR009
MIFTS: 33

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 54 23 50 24 25 56 71 69
Lehman Syndrome 23 50 24 25 56 71 29
Lms 50 24 25 71
Lmns 71

Characteristics:

Orphanet epidemiological data:

56
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
mutations occur de novo


HPO:

32
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 : 54
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 short stature, scoliosis and umbilical hernia. An important gene associated with Lateral Meningocele Syndrome is NOTCH3 (Notch 3). Affiliated tissues include bone, spinal cord and skin.

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 : 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.

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

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 11.9
2 leiomyosarcoma 11.1
3 microcystic lymphatic malformation 10.9
4 lenz-majewski hyperostotic dwarfism 10.8
5 laurence-moon syndrome 10.8
6 lactose intolerance 10.8
7 meningocele 10.1
8 testicular cancer 9.8
9 adult syndrome 9.8
10 hajdu-cheney syndrome 9.7
11 sarcoma 9.7
12 osteogenesis imperfecta 9.7
13 leiomyoma 9.7
14 complex regional pain syndrome 9.7
15 neural tube defects 9.7
16 endometrial stromal sarcoma 9.7
17 smooth muscle tumor 9.7
18 insulin-like growth factor i 9.7
19 adenoiditis 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:

54

Growth- Height:
short stature

Skeletal- Spine:
scoliosis
kyphosis
vertebral fusion
scalloping of vertebral bodies

Neurologic- Central Nervous System:
delayed motor development
syringomyelia
dural ectasia
arachnoid cyst
chiari i malformation
more
Head And Neck- Eyes:
downslanting palpebral fissures
ptosis
hypertelorism

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

Cardiovascular- Vascular:
patent ductus arteriosus

Genitourinary- External Genitalia Male:
cryptorchidism

Chest- External Features:
pectus excavatum

Head And Neck- Head:
dolichocephaly

Skeletal:
joint hyperextensibility

Skin Nails & Hair- Skin:
keloid formation

Head And Neck- Mouth:
high-arched palate

Muscle Soft Tissue:
hypotonia

Abdomen- External Features:
umbilical hernia
inguinal hernia

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

Skeletal- Skull:
wormian bones
platybasia
sclerosis of the skull base

Head And Neck- Nose:
short nasal bridge

Head And Neck- Neck:
short neck

Skin Nails & Hair- Hair:
coarse hair

Head And Neck- Teeth:
dental crowding

Cardiovascular- Heart:
bicuspid aortic valve (1 patient)

Voice:
high nasal voice


Clinical features from OMIM:

130720

Human phenotypes related to Lateral Meningocele Syndrome:

32 (show all 41)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 umbilical hernia 32 HP:0001537
4 ptosis 32 HP:0000508
5 low-set ears 32 HP:0000369
6 micrognathia 32 HP:0000347
7 hypertelorism 32 HP:0000316
8 wormian bones 32 HP:0002645
9 kyphosis 32 HP:0002808
10 patent ductus arteriosus 32 HP:0001643
11 short nasal bridge 32 HP:0003194
12 posteriorly rotated ears 32 HP:0000358
13 cryptorchidism 32 HP:0000028
14 short neck 32 HP:0000470
15 inguinal hernia 32 HP:0000023
16 joint hypermobility 32 HP:0001382
17 long philtrum 32 HP:0000343
18 pectus excavatum 32 HP:0000767
19 motor delay 32 HP:0001270
20 syringomyelia 32 HP:0003396
21 coarse hair 32 HP:0002208
22 downslanted palpebral fissures 32 HP:0000494
23 high palate 32 HP:0000218
24 dural ectasia 32 HP:0100775
25 smooth philtrum 32 HP:0000319
26 dolichocephaly 32 HP:0000268
27 muscular hypotonia 32 HP:0001252
28 malar flattening 32 HP:0000272
29 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
30 dental crowding 32 HP:0000678
31 arachnoid cyst 32 HP:0100702
32 meningocele 32 HP:0002435
33 vertebral fusion 32 HP:0002948
34 platybasia 32 HP:0002691
35 sclerosis of skull base 32 HP:0002694
36 biconcave vertebral bodies 32 HP:0004586
37 conductive hearing impairment 32 HP:0000405
38 abnormality of the middle ear ossicles 32 HP:0004452
39 abnormality of the skin 32 HP:0000951
40 arnold-chiari type i malformation 32 HP:0007099
41 abnormality of the rib cage 32 HP:0001547

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:

id Genetic test Affiliating Genes
1 Lehman Syndrome 29
2 Lateral Meningocele Syndrome 24 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

39
Bone, Spinal Cord, Skin

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

id 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
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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