Oculoectodermal syndrome

Title

Other Names:

Oculo-ectodermal syndrome; Aplasia cutis congenita with epibulbar dermoids; Toriello Lacassie Droste syndrome

Categories:

Congenital and Genetic Diseases; Skin Diseases

We add information to this page as we receive questions about this condition. If you have a specific question, contact a GARD Information Specialist.

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)
Arachnoid cyst	Occasional (present in 5%-29% of cases)
Astigmatism	Occasional (present in 5%-29% of cases)
Opacification of the corneal stroma	Occasional (present in 5%-29% of cases)
Parietal bossing	Occasional (present in 5%-29% of cases)
Wide nasal bridge	Occasional (present in 5%-29% of cases)
Anisometropia	-
Aplasia cutis congenita	-
Autosomal dominant inheritance	-
Bladder exstrophy	-
Cleft eyelid	-
Coarctation of aorta	-
Epibulbar dermoid	-
Epicanthus	-
Epidermal nevus	-
Growth delay	-
Hyperactivity	-
Hyperpigmentation of the skin	-
Lower limb asymmetry	-
Lymphedema	-
Macrocephaly	-
Phenotypic variability	-
Proptosis	-
Seizures	-
Strabismus	-
Transient ischemic attack	-

Last updated: 5/8/2017

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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 Oculoectodermal syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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