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Disease Profile
Oculocerebrocutaneous syndrome
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
Q87.8
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
Other names (AKA)
Delleman syndrome; Delleman Oorthuys syndrome; Orbital cyst with cerebral and focal dermal malformations;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Oculocerebrocutaneous (OCC)
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 | ||
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ] |
0008065 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Preauricular skin tag | 0000384 | |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
30%-79% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Aplasia/Hypoplasia of the |
0007370 | |
Calvarial skull defect |
Cranial defect
Skull defect
[ more ] |
0001362 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ] |
0000625 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
5%-29% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Aplasia/Hypoplasia of the distal phalanges of the toes |
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe
[ more ] |
0010185 |
0000776 | ||
Congenital hip dislocation |
Dislocated hip since birth
|
0001374 |
Corneal opacity | 0007957 | |
Dandy-Walker malformation | 0001305 | |
Difficulty articulating speech
|
0001260 | |
Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
External ear malformation | 0008572 | |
Facial cleft |
Cleft of the face
|
0002006 |
Finger |
0006101 | |
Hand |
Extra finger
|
0001161 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Iris coloboma |
Cat eye
|
0000612 |
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Oral cleft |
Cleft of the mouth
|
0000202 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Talipes | 0001883 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Agenesis of corpus callosum | 0001274 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
Cleft ala nasi |
Cleft nostril
|
0003191 |
Cleft roof of mouth
|
0000175 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Focal dermal aplasia/hypoplasia | 0007510 | |
Gray matter heterotopia | 0002282 | |
Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Orbital cyst |
Cyst of eye socket
|
0001144 |
Orbital encephalocele | 0007115 | |
Sporadic |
No previous family history
|
0003745 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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Differential diagnosis includes encephalocraniocutaneous lipomatosis, but the multitude of mesenchymal tumors (in particular lipomas, and choristomas) and CNS anomalies exclude it from OCCS. The brain malformations overlap substantially with those seen in Aicardi syndrome although the mid-hindbrain malformation is unkown in Aicardi syndrome and the typical chorioretinal lacunae associated with Aicardi syndrome are unknown in OCCS. Goldenhar syndrome, focal dermal hypoplasia and microphthalmia with linear skin defects should also be considered. The mid-hindbrain malformations may be confused with Dandy-Walker malformation, but are often complex and severe in OCCS.
Visit the Orphanet disease page for more information.
|
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 Oculocerebrocutaneous syndrome. Click on the link to view a sample search on this topic.
References
- Moog, U. Oculocerebrocutaneous syndrome. Orphanet. April, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1647.
- Oculocerebrocutaneous Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/oculocerebrocutaneous-syndrome/.
- Oculocerebrocutaneous syndrome. OMIM. February 19, 2015; https://www.omim.org/entry/164180.