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Disease Profile
Lissencephaly 2
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.
Unknown
Age of onset
Infancy
ICD-10
Q04.3
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)
LIS2; Norman Roberts lissencephaly syndrome; Lissencephaly syndrome Norman-Roberts type
Categories
Blood Diseases; Congenital and Genetic Diseases; Nervous System Diseases;
Summary
Lissencephaly 2 is an
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 | ||
4-layered lissencephaly | 0006818 | |
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
0011451 | ||
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Microlissencephaly | 0045028 | |
30%-79% of people have these symptoms | ||
Abnormal muscle tone | 0003808 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Microretrognathia |
Small retruded chin
|
0000308 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Profound global |
0012736 | |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
0001250 | ||
Severe global developmental delay | 0011344 | |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Small forehead |
Decreased size of forehead
|
0000350 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
5%-29% of people have these symptoms | ||
Abnormal retinal morphology |
Retina issue
|
0000479 |
Adducted thumb |
Inward turned thumb
|
0001181 |
Agenesis of |
0001274 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypoplastic spleen |
Underdeveloped spleen
|
0006270 |
Patent foramen ovale | 0001655 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
1%-4% of people have these symptoms | ||
Global developmental delay | 0001263 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Generalized-onset seizure | 0002197 | |
Hypoplasia of the pons | 0012110 | |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Thick cerebral cortex | 0006891 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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 contains information on Lissencephaly 2. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- 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 Lissencephaly 2. Click on the link to view a sample search on this topic.
References
- Gleeson JG. Lissencephaly. National Organization for Rare Disorders (NORD). 2009; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/454/viewAbstract. Accessed 1/24/2012.
- Lissencephaly syndrome, Norman-Roberts type. Orphanet. March 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89844. Accessed 1/24/2012.