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||
|80%-99% of people have these symptoms|
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
Underdeveloped cerebellum[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
More grooves in brain
|Preauricular skin tag||0000384|
Drooping upper eyelid
|30%-79% of people have these symptoms|
|Aplasia/Hypoplasia of the
|Calvarial skull defect||
Skull defect[ more ]
Undescended testis[ more ]
Notched eyelid[ more ]
Paralysis or weakness of one side of body
Too much cerebrospinal fluid in the brain
|Hypopigmented skin patches||
Patchy loss of skin color
|5%-29% of people have these symptoms|
|Abnormality of the fingernails||
|Aplasia/Hypoplasia of the distal phalanges of the toes||
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe[ more ]
|Congenital hip dislocation||
Dislocated hip since birth
Difficulty articulating speech
|External ear malformation||0008572|
Cleft of the face
Hearing defect[ more ]
Widely spaced eyes[ more ]
Decreased rib number[ more ]
Involuntary, rapid, rhythmic eye movements
Cleft of the mouth
|Short distal phalanx of finger||
Short outermost finger bone
Large mouth[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the thorax||
Abnormality of the chest
|Agenesis of corpus callosum||0001274|
Absence of eyeballs
Failure of development of eyeball
No eyeball[ more ]
|Cleft ala nasi||
Asymmetry of face
Unsymmetrical face[ more ]
|Focal dermal aplasia/hypoplasia||0007510|
|Hypoplasia of the corpus callosum||
Underdevelopment of part of brain called corpus callosum
Abnormally small eyeball
Cyst of eye socket
No previous family history
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.
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. Goldenhar syndrome, focal dermal hypoplasia and Aicardi syndrome (see these terms) 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.
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.
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