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Oculocerebrocutaneous syndrome


Title




Other Names:
Delleman syndrome; Delleman Oorthuys syndrome; Orbital cyst with cerebral and focal dermal malformations; Delleman syndrome; Delleman Oorthuys syndrome; Orbital cyst with cerebral and focal dermal malformations; OCCS; OCC Syndrome; Oculo-cerebro-cutaneous syndrome See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


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Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males.[1][2][3] Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypoplasia) or absence (agenesis) of the band of nerve fibers that joins the brain's hemispheres (corpus callosum).[2][3] Diagnosis is confirmed on the basis of specific MRI findings.[1] In some affected individuals, the eye, skin, and brain findings involve only one side of the body. In these cases, the left side is involved twice as often as the right side.[1][2] Additional findings may include rib and vertebral anomalies and craniofacial anomalies.[1][2][3] Developmental delay and intellectual disability may be present and can vary from mild to profound. Approximately 50% of affected individuals have seizures.[1] The exact cause of OCC syndrome is not known.[1] In most cases, the affected individual is the first person in the family to have the disorder.[1] The management of OCC syndrome varies depending on the specific symptoms in a given individual but usually involves a multidisciplinary team of doctors.[1] Most surviving patients have significant psychomotor delays (delays in acquiring the skills needed to coordinate mental and physical activities).[1][2]
Last updated: 6/15/2015

Symptoms Symptoms


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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.

Showing of 49 |
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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Polymicrogyria
More grooves in brain
0002126
Preauricular skin tag 0000384
Ptosis
Drooping upper eyelid
0000508
Seizure 0001250
30%-79% of people have these symptoms
Alopecia
Hair loss
0001596
Aplasia/Hypoplasia of the corpus callosum 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
Hydrocephalus
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
Congenital diaphragmatic hernia 0000776
Congenital hip dislocation
Dislocated hip since birth
0001374
Corneal opacity 0007957
Dandy-Walker malformation 0001305
Dysarthria
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 syndactyly 0006101
Hand polydactyly
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
Nystagmus
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 palate
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
Showing of 49 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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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
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 Learn More


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Moog, U. Oculocerebrocutaneous syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1647.
  2. Oculocerebrocutaneous Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/oculocerebrocutaneous-syndrome/.
  3. Oculocerebrocutaneous syndrome. OMIM. February 19, 2015; http://www.omim.org/entry/164180.
Do you know of a review article? We want to hear from you.
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