Lateral meningocele syndrome




Input patient's signs and symptoms


Narrow down the case reports



Total: 8 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.0%)		 25394726
(5589071)
 Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K.
Am J Med Genet A. 2015;167A(2):271-81.
Narrow palate Micrognathia Telecanthus
NOTCH2 NOTCH3
c|DEL|6461_6486| c|INS|6692_93|C c|SUB|A|6247|T;RS#:796065045 c|SUB|C|6663|G c|SUB|C|6732|A p|Y|2221|* p|Y|2244|* rs1555729077 rs773656789 rs780169747 rs796065045 rs869312909 rs869312910 rs869312911
Child Child, Preschool DNA Mutational Analysis Exome Exons Facies High-Throughput Nucleotide Sequencing Homo sapiens Magnetic Resonance Imaging Male Mutation Phenotype Receptor, Notch3 Receptors, Notch Young Adult
2
(60.5%)		 23962060
 Lehman syndrome: a new syndrome for pierre robin sequence.
Correia-Sa I, Horta R, Neto T, Amarante J, Marques M.
Cleft Palate Craniofac J. 2015;52(3):369-72.
Glossoptosis Micrognathia
Homo sapiens Infant Magnetic Resonance Imaging Male Micrognathism Osteogenesis, Distraction
3
(20.4%)		 26754023
 Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT.
Am J Med Genet A. 2016;170A(4):1070-5.
Joint hypermobility
rs1555725043
Brain Child, Preschool DNA Mutational Analysis Exons Facies Homo sapiens Magnetic Resonance Imaging Male Mutation Neuroimaging Phenotype Receptor, Notch3
4
(17.5%)		 24311540
 Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P.
Am J Med Genet A. 2014;164A(2):528-34.
Muscle weakness
Brain Delayed Diagnosis Differential Diagnosis Females Homo sapiens Joint Instability Magnetic Resonance Imaging Middle Aged Musculoskeletal Pain Phenotype
5
(4.0%)		 27911244
 Neurosurgical management in lateral meningocele syndrome: case report.
Brown EC, Gupta K, Sayama C.
J Neurosurg Pediatr. 2017;19(2):232-238.
Meningocele
Brain Cleft Palate Developmental Disabilities Females Homo sapiens Infant Neurosurgical Procedures
5
(4.0%)		 23696373
 Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis.
Alves D, Sampaio M, Figueiredo R, Leao M.
Am J Med Genet A. 2013;161A(7):1768-72.
Bicuspid aortic valve
rs869312911
Child, Preschool Connective Tissue Face Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Pregnancy
5
(4.0%)		 23074680
(3447232)
 MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome.
Sharda S, Panigrahi I, Marwaha RK.
Case Rep Genet. 2011;2011:839650.
Cryptorchidism
5
(4.0%)		 8574426
 Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.
Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M.
Clin Dysmorphol. 1995;4(4):347-51.
Meningocele
Adult Bone and Bones Dura Mater Face Homo sapiens Magnetic Resonance Imaging Male Osteosclerosis Spinal Canal Spinal Cord Diseases Syndrome X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0002435 Meningocele Very frequent (99-80%)
HP:0002645 Wormian bones Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0100775 Dural ectasia Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000678 Dental crowding Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0004452 Abnormality of the middle ear ossicles Frequent (79-30%)
HP:0004493 Craniofacial hyperostosis Frequent (79-30%)
HP:0005487 Prominent metopic ridge Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0002308 Arnold-Chiari malformation Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0003396 Syringomyelia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0002435 Meningocele 4
HP:0000347 Micrognathia 1
HP:0001324 Muscle weakness 1
HP:0001382 Joint hypermobility 1
HP:0001513 Obesity 1
HP:0001647 Bicuspid aortic valve 1
HP:0032478 Lateral spinal meningocele 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NOTCH3 notch receptor 3 4854