Rare Hematology News

Disease Profile

Lateral meningocele syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

LMS; Lehman syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Atresia of the external auditory canal
Absent ear canal
0000413
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Dural ectasia
0100775
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Meningocele
0002435
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Ptosis
Drooping upper eyelid
0000508
Wormian bones
Extra bones within cranial sutures
0002645
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Abnormality of the middle ear ossicles
0004452
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Inguinal hernia
0000023
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Low posterior hairline
Low hairline at back of neck
0002162
Pectus excavatum
Funnel chest
0000767
Prominent metopic ridge
0005487
Scoliosis
0002650
Short neck
Decreased length of neck
0000470
Smooth philtrum
0000319
Umbilical hernia
0001537
5%-29% of people have these symptoms
Arnold-Chiari malformation
0002308
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Global developmental delay
0001263
Hyperlordosis
Prominent swayback
0003307
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Iris coloboma
Cat eye
0000612
Kyphosis
Hunched back
Round back

[ more ]

0002808
Muscular hypotonia
Low or weak muscle tone
0001252
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Sensorineural hearing impairment
0000407
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Abnormality of the skin
0000951
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Arnold-Chiari type I malformation
0007099
Autosomal dominant inheritance
0000006
Biconcave vertebral bodies
0004586
Coarse hair
Coarse hair texture
0002208
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints

[ more ]

0001382
Long philtrum
0000343
Motor delay
0001270
Patent ductus arteriosus
0001643
Platybasia
0002691
Sclerosis of skull base
Dense bone of skull base
0002694
Short nasal bridge
Decreased length of bridge of nose
Decreased length of nasal bridge
Short bridge of nose

[ more ]

0003194
Short stature
Decreased body height
Small stature

[ more ]

0004322
Vertebral fusion
Spinal fusion
0002948

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Lateral meningocele syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lateral meningocele syndrome. Click on the link to view a sample search on this topic.