Rare Pulmonology 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.
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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 | |
|
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 |
|
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 | |
| 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 |
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 |
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 | |
| 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 |
|
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.