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Disease Profile

Oculoectodermal syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

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

Orpha Number: 3339

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.

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.

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
Generalized hyperpigmentation
0007440
Limbal dermoid
0001140
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
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal dominant inheritance
0000006
Bladder exstrophy
0002836
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Epidermal nevus
0010816
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Hyperactivity
More active than typical
0000752
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Patent ductus arteriosus
0001643
Seizure
0001250
Short neck
Decreased length of neck
0000470
Somatic mutation
0001428
Supernumerary nipple
Accessory nipple

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.

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