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Disease Profile
Oculocerebral syndrome with hypopigmentation
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.
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Age of onset
Neonatal
ICD-10
E70.3
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)
Cross syndrome; Kramer syndrome; Oculocerebral hypopigmentation syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;
Summary
Orpha Number: 2719
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 | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Abnormality of extrapyramidal motor function | 0002071 | |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ] |
0008056 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
0001251 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Corneal opacity | 0007957 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Ectropion |
Eyelid turned out
|
0000656 |
0002353 | ||
Hyperreflexia |
Increased reflexes
|
0001347 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Microdontia |
Decreased width of tooth
|
0000691 |
Narrow mouth |
Small mouth
|
0000160 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Ocular albinism |
Absent pigmentation in the eye
|
0001107 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Spastic tetraplegia | 0002510 | |
5%-29% of people have these symptoms | ||
Abnormal thumb morphology |
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity
[ more ] |
0001172 |
Abnormality of bone marrow |
0005561 | |
Abnormality of the voice |
Voice abnormality
|
0001608 |
Athetosis |
Involuntary writhing movements in fingers, hands, toes, and feet
|
0002305 |
Choroideremia | 0001139 | |
Dandy-Walker malformation | 0001305 | |
Hypopigmentation of hair |
Loss of hair color
|
0005599 |
Inguinal hernia | 0000023 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Sensorineural hearing impairment | 0000407 | |
Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the eye |
Abnormal eye
|
0000478 |
0000007 | ||
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Silver-gray hair |
Silver-gray hair color
Silvery-gray hair
[ more ] |
0002218 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
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
- 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 Oculocerebral syndrome with hypopigmentation. Click on the link to view a sample search on this topic.