National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

EEC syndrome


Other Names:
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; Rudiger syndrome 1; Walker-Clodius syndrome; Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; Rudiger syndrome 1; Walker-Clodius syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate; Ectrodactyly-cleft lip/palate syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome See More
Categories:
EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft 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]
Last updated: 4/11/2016

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.

Showing of 95 |
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-retardation
Mental deficiency
Mental retardation
Mental retardation, nonspecific
[ 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
Abnormality of the nasopharynx 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
Deafness
Hearing defect
[ more ] 		0000365
Hydronephrosis 0000126
Hydroureter 0000072
Hyperkeratosis 0000962
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypogonadotropic hypogonadism 0000044
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Hypoplastic nipples
Small nipples
0002557
Inguinal hernia 0000023
Malar flattening
Zygomatic flattening
0000272
Megacystis 0000021
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microdontia
Decreased width of tooth
0000691
Micropenis
Short penis
Small penis
[ more ] 		0000054
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Nail pits
Nail pitting
Pitted nails
[ more ] 		0001803
Oligodontia
Failure of development of more than six teeth
0000677
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal dysplasia 0000110
Selective tooth agenesis 0001592
Semilobar holoprosencephaly 0002507
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse axillary hair
Limited armpit hair
Little underarm hair
[ more ] 		0002215
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] 		0000653
Sparse pubic hair
Decreased sexual hair
0002225
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] 		0002209
Split foot
Lobster-claw foot deformity
Split-foot
[ more ] 		0001839
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Telecanthus
Corners of eye widely separated
0000506
Thin skin 0000963
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Transverse vaginal septum 0000145
Ureterocele 0000070
Urethral stenosis
Narrowing of the urethra
0008661
Vesicoureteral reflux 0000076
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] 		0000217
Showing of 95 |
Last updated: 7/1/2020
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]
Last updated: 4/11/2016
EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child.[3]

EEC syndrome additionally shows reduced penetrance and variable expressivity.[3] Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition.[3][2] Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies).
Last updated: 4/11/2016
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 7. Genetic 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.
Last updated: 4/11/2016

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

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I met someone whose mother and brother have this disorder but she does not. Would it be necessary for her to have genetic testing to see if she is a carrier? Is it possible that she could have children without this disorder? See answer


  1. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate. NORD. 2012; http://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; http://www.ncbi.nlm.nih.gov/books/NBK43797/.
  3. Didier Lacombe. EEC syndrome. Orphanet. March 2011; http://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.