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

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 3339

Disease definition

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

Visit the Orphanet disease page for more resources.

Last updated: 2/25/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Absent septum pellucidum		0001331
Agenesis of corpus callosum		0001274
Aplasia/Hypoplasia of the skin	Absent/small skin Absent/underdeveloped skin [ more ]	0008065
Epibulbar dermoid		0001140
Generalized hyperpigmentation		0007440
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Abnormality of the ureter		0000069
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Blepharophimosis	Narrow opening between the eyelids	0000581
Brachydactyly	Short fingers or toes	0001156
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Laryngeal hypoplasia		0008749
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Muscular hypotonia	Low or weak muscle tone	0001252
Polyhydramnios	High levels of amniotic fluid	0001561
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short palm		0004279
Short palpebral fissure	Short opening between the eyelids	0012745
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Telecanthus	Corners of eye widely separated	0000506
5%-29% of people have these symptoms
Abnormal facial shape	Unusual facial appearance	0001999
Abnormality of the bladder		0000014
Arachnoid cyst	Fluid-filled sac located in membrane surrounding brain or spinal cord	0100702
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Epispadias		0000039
Eyelid coloboma	Cleft eyelid Notched eyelid [ more ]	0000625
Global developmental delay		0001263
Hypospadias		0000047
Opacification of the corneal stroma		0007759
Parietal bossing		0000242
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Percent of people who have these symptoms is not available through HPO
Anisometropia		0012803
Aplasia cutis congenita	Absence of part of skin at birth	0001057
Autosomal dominant inheritance		0000006
Bladder exstrophy		0002836
Coarctation of aorta	Narrowing of aorta Narrowing of the aorta [ more ]	0001680
Epidermal nevus		0010816
Hyperactivity	More active than typical	0000752
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Lower limb asymmetry		0100559
Lymphedema	Swelling caused by excess lymph fluid under skin	0001004
Seizures	Seizure	0001250
Transient ischemic attack	Mini stroke	0002326

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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 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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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