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Disease Profile
Cutis verticis gyrata
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
All ages
ICD-10
Q82.8
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
Categories
Skin Diseases
Summary
Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain.[1][2] It occurs more commonly in males, and most commonly develops after puberty, but before age 30. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric disorders, eye abnormalities, or inflammatory conditions.[1][2] While most isolated cases of unknown cause are sporadic,
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 | ||
Nevus |
Mole
|
0003764 |
0001250 | ||
Thickened skin |
Thick skin
|
0001072 |
30%-79% of people have these symptoms | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
5%-29% of people have these symptoms | ||
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
Aplasia/Hypoplasia of the |
0007370 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
0002353 | ||
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
Cause
- Primary essential refers to cases in which no other abnormality is present. In this form the cause is not known. While most of these cases appear to be sporadic,
autosomal recessive andautosomal dominant inheritance have been described. - Primary nonessential can be associated with
intellectual disability , cerebral palsy,epilepsy (seizures ), schizophrenia, cranial abnormalities (microcephaly ), deafness, eye or vision abnormalities, or a combination of these. In this form, the cause may have an endocrinologic basis (caused by abnormalities of the endocrine system). - Secondary associated with a wide variety of underlying diseases and treatments, which can be viewed here on Medscape's website. In these cases, the underlying cause depends on the associated disease or treatment.
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
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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 Cutis verticis gyrata. Click on the link to view a sample search on this topic.
References
- Skibinska MD. Cutis Verticis Gyrata. Medscape Reference. April 14, 2016; https://emedicine.medscape.com/article/1113735-overview.
- Larson F. Cutis verticis gyrata. DermNet NZ. 2007; https://dermnetnz.org/dermal-infiltrative/cutis-verticis-gyrata.html.
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