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

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.[2][3] 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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Aplasia/Hypoplasia of the skin	Very frequent (present in 80%-99% of cases)
Cerebellar hypoplasia	Very frequent (present in 80%-99% of cases)
Intellectual disability	Very frequent (present in 80%-99% of cases)
Polymicrogyria	Very frequent (present in 80%-99% of cases)
Preauricular skin tag	Very frequent (present in 80%-99% of cases)
Ptosis	Very frequent (present in 80%-99% of cases)
Seizures	Very frequent (present in 80%-99% of cases)
Alopecia	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the corpus callosum	Frequent (present in 30%-79% of cases)
Calvarial skull defect	Frequent (present in 30%-79% of cases)
Cleft eyelid	Frequent (present in 30%-79% of cases)
Cryptorchidism	Frequent (present in 30%-79% of cases)
Hemiplegia/hemiparesis	Frequent (present in 30%-79% of cases)
Hydrocephalus	Frequent (present in 30%-79% of cases)
Hypopigmented skin patches	Frequent (present in 30%-79% of cases)
Abnormality of the fingernails	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the distal phalanges of the toes	Occasional (present in 5%-29% of cases)
Congenital diaphragmatic hernia	Occasional (present in 5%-29% of cases)
Congenital hip dislocation	Occasional (present in 5%-29% of cases)
Corneal opacity	Occasional (present in 5%-29% of cases)
Dandy-Walker malformation	Occasional (present in 5%-29% of cases)
Dysarthria	Occasional (present in 5%-29% of cases)
Exostoses	Occasional (present in 5%-29% of cases)
External ear malformation	Occasional (present in 5%-29% of cases)
Facial cleft	Occasional (present in 5%-29% of cases)
Finger syndactyly	Occasional (present in 5%-29% of cases)
Hand polydactyly	Occasional (present in 5%-29% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
Hypertelorism	Occasional (present in 5%-29% of cases)
Iris coloboma	Occasional (present in 5%-29% of cases)
Missing ribs	Occasional (present in 5%-29% of cases)
Nystagmus	Occasional (present in 5%-29% of cases)
Oral cleft	Occasional (present in 5%-29% of cases)
Short distal phalanx of finger	Occasional (present in 5%-29% of cases)
Talipes	Occasional (present in 5%-29% of cases)
Wide mouth	Occasional (present in 5%-29% of cases)
Abnormality of the thorax	-
Agenesis of corpus callosum	-
Anophthalmia	-
Cleft ala nasi	-
Facial asymmetry	-
Focal dermal aplasia/hypoplasia	-
Heterotopia	-
Hypoplasia of the corpus callosum	-
Microphthalmia	-
Orbital cyst	-
Orbital encephalocele	-
Sporadic	-

Last updated: 9/1/2017

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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 Genetics Home Reference.

Learn More 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.

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.

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References References

Moog, Ute. Oculocerebrocutaneous syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1647. Accessed 6/15/2015.
Oculocerebrocutaneous syndrome. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/oculocerebrocutaneous-syndrome/. Accessed 6/15/2015.
Oculocerebrocutaneous syndrome. OMIM. Feb, 2015; http://www.omim.org/entry/164180. Accessed 6/15/2015.

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