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Disease Profile
EEC syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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 |
0006101 | |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Hypoplasia of the thymus |
Small thymus
|
0000778 |
Hypospadias | 0000047 | |
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 | |
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 |
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 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 |
0000824 | |
Hand |
Extra finger
|
0001161 |
Hearing impairment |
Cause Approximately 90% of individuals with EEC
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 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
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 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. OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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