Rare Ophthalmology News

Disease Profile

EEC 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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Antenatal

ICD-10

Q82.4

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)

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; Rudiger syndrome 1; Walker-Clodius syndrome;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;

Summary

EEC syndrome (Ectrodactyly-Ectodermal DysplasiaCleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract.[1][2] EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.[3] Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.[3]

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
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Coarse hair
Coarse hair texture
0002208
Dry skin
0000958
Lacrimation abnormality
Abnormality of tear production
0000632
Nail dystrophy
Poor nail formation
0008404
Reduced number of teeth
Decreased tooth count
0009804
Taurodontia
0000679
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Keratitis
Corneal inflammation
0000491
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Slow-growing hair
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth

[ more ]

0002217
Urethral atresia
0000068
5%-29% of people have these symptoms
Abnormality of the middle ear
0000370
Aplasia/Hypoplasia of the breasts
Absent/small breasts
Absent/underdeveloped breasts

[ more ]

0010311
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples

[ more ]

0006709
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb

[ more ]

0009601
Entropion
Eyelid turned in
0000621
External ear malformation
0008572
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Finger syndactyly
0006101
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased

[ more ]

0000966
Hypoplasia of the thymus
Small thymus
0000778
Hypospadias
0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Lymphoma
Cancer of lymphatic system
0002665
Nevus
Mole
0003764
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Percent of people who have these symptoms is not available through HPO
Abnormal nasopharynx morphology
0001739
Absence of Stensen duct
0000198
Anal atresia
Absent anus
0002023
Autosomal dominant inheritance
0000006
Bladder diverticulum
0000015
Blepharitis
Inflammation of eyelids
0000498
Blepharophimosis
Narrow opening between the eyelids
0000581
Blue irides
Blue eyes
0000635
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

0000455
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Central diabetes insipidus
0000863
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dacryocystitis
0000620
Depressed nasal tip
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed

[ more ]

0000437
Duplicated collecting system
0000081
Ectodermal dysplasia
0000968
Ectrodactyly
Cleft hand
Lobster claw hand

[ more ]

0100257
Fair hair
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)

[ more ]

0002286
Generalized hypopigmentation
Fair skin
Pale pigmentation

[ more ]

0007513
Growth hormone deficiency
0000824
Hand polydactyly
Extra finger
0001161
Hearing impairment

Cause

Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3).[4][3]

In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1).[3]

Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7.[2]

Diagnosis

It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. 

Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here.

Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known.

Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.

    Where to Start

    • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      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. 
        EEC syndrome 1
        EEC syndrome 3
      • 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 EEC syndrome. Click on the link to view a sample search on this topic.

        References

        1. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate. NORD. 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/935/viewAbstract.
        2. V Reid Sutton, Hans van Bokhoven. TP63-Related Disorders. GeneReveiws. August 6, 2015; https://www.ncbi.nlm.nih.gov/books/NBK43797/.
        3. Didier Lacombe. EEC syndrome. Orphanet. March 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1896.
        4. TP63. Genetics Home Reference. June 2011; https://ghr.nlm.nih.gov/gene/TP63.

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