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

Oculodentodigital dysplasia


Other Names:
Oculo-dento-digital dysplasia; Oculo-dento-digital syndrome; Oculodentodigital syndrome; Oculo-dento-digital dysplasia; Oculo-dento-digital syndrome; Oculodentodigital syndrome; ODDD; ODD syndrome See More
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This disease is grouped under:
Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The condition is caused by a mutation in GJA1 and is most typically inherited in an autosomal dominant manner.[1] Oculodentodigital dysplasia can be diagnosed by a clinical examination and confirmed with genetic testing. Management is based on treating the specific symptoms that each affected person exhibits. Early diagnosis can help ensure that the best treatment is available and that steps can be taken to prevent more symptoms from developing.[2][3] 
Last updated: 2/19/2017
The most common features of oculodentodigital dysplasia affect the eyes, teeth, and fingers and toes. People affected by this condition commonly have small eyes (microphthalmia) that may be slanted and widely spaced. These individuals may also have glaucoma, or one or both eyes may turn inwards (strabismus). These eye problems may cause affected individuals to have vision loss. Tooth abnormalities include having small or missing teeth and weak enamel leading to multiple cavities. Finger and toe abnormalities may include having bony growths in the hands or webbing of the skin (syndactyly) between the fourth and fifth fingers or toes.[1][4]

People with oculodentodigital dysplasia may also have features that affect other body parts. These features may include having a thin nose, sparse hair growth (hypotrichosis), brittle nails, curved fingers, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some individuals may also experience neurological problems that can cause a lack of bladder or bowel control (incontinence), difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria).[5]

A few people with oculodentodigital dysplasia have a skin condition called palmoplantar keratoderma. This condition causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.[1] 
Last updated: 2/19/2017

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 101 |
Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] 		0000682
Broad columella 0010761
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Finger syndactyly 0006101
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Narrow nasal bridge
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] 		0000446
Premature loss of primary teeth
Early loss of baby teeth
Premature loss of baby teeth
[ more ] 		0006323
Reduced number of teeth
Decreased tooth count
0009804
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
30%-79% of people have these symptoms
Abnormal cortical bone morphology 0003103
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ] 		0009843
Ataxia 0001251
Broad alveolar ridges 0000187
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Cranial hyperostosis 0004437
Curly hair 0002212
Dysarthria
Difficulty articulating speech
0001260
External ear malformation 0008572
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Glaucoma 0000501
High forehead 0000348
High hypermetropia
Severe farsightedness
Severe long-sightedness
[ more ] 		0008499
Hyperreflexia
Increased reflexes
0001347
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Median cleft lip
Central cleft upper lip
0000161
Mild global developmental delay 0011342
Muscle weakness
Muscular weakness
0001324
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Neurogenic bladder
Lack of bladder control due to nervous system injury
0000011
Optic atrophy 0000648
Seizure 0001250
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Slow-growing hair
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ] 		0002217
Sparse hair 0008070
Spastic paraparesis 0002313
Thin anteverted nares 0004495
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Abnormal diaphysis morphology
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ] 		0000940
Abnormal form of the vertebral bodies 0003312
Abnormality iris morphology
Abnormality of the iris
0000525
Abnormality of the clavicle
Abnormal collarbone
0000889
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
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
Brachydactyly
Short fingers or toes
0001156
Brittle hair 0002299
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
Hypoglycemia
Low blood sugar
0001943
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Madelung deformity 0003067
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Non-midline cleft lip 0100335
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Preaxial hand polydactyly
Extra thumb
0001177
Short hallux
Short big toe
0010109
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Taurodontia 0000679
Umbilical hernia 0001537
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
3-4 toe syndactyly
Webbed 3rd-4th toes
0009779
4-5 finger syndactyly
Webbed 4th-5th finger
0010705
Abnormality of the cerebral white matter 0002500
Autosomal dominant inheritance 0000006
Basal ganglia calcification 0002135
Blepharophimosis
Narrow opening between the eyelids
0000581
Cleft upper lip
Harelip
0000204
Clinodactyly
Permanent curving of the finger
0030084
Cubitus valgus
Outward turned elbows
0002967
Dry hair 0011359
Fragile nails
Brittle nails
0001808
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hyperactive deep tendon reflexes 0006801
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Joint contracture of the 5th finger 0009183
Low hanging columella 0009765
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
Microphthalmia
Abnormally small eyeball
0000568
Paraparesis
Partial paralysis of legs
0002385
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] 		0006480
Selective tooth agenesis 0001592
Short middle phalanx of the 5th finger
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ] 		0004220
Short palpebral fissure
Short opening between the eyelids
0012745
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Tetraparesis 0002273
Vertebral hyperostosis 0008442
Showing of 101 |
Last updated: 7/1/2020
Oculodentodigital dysplasia is caused by changes (mutations) in the GJA1 gene. This gene provides instructions to the body to make a protein that helps to form gap junctions. Gap junctions allow for communication between cells of the body. When there is a mutation in GJA1, the body does not form gap junctions correctly, and the communication between cells does not work well. This means that cells cannot grow as they are supposed to, and in some cases cells are not able to undergo changes to be able to accomplish specific functions. This lack of communication between cells causes the symptoms that are seen in individuals with oculodentodigital dysplasia.[1]
Last updated: 2/19/2017
In some cases, oculodentodigital dysplasia is inherited from a parent in an autosomal dominant manner. This means that a parent with a change in the GJA1 gene passes this change on to his or her child. We inherit one copy of every gene from our mother, and the other copy from our father. If one copy from either parent has a change that causes the gene not to work properly, an individual may show symptoms of oculodentodigital dysplasia.[1]

In other cases, a person with oculodentodigital dysplasia is born to two people who are not affected by the condition. This could occur for one of two reasons. First, one of the parents of the affected individual may have the changed gene, but does not show any symptoms of the condition. This is a situation called reduced penetrance, which occurs when a mutated gene does not cause symptoms in every individual who has the gene. Another reason that a person affected by oculodentodigital dysplasia might be the only person in his or her family to be affected by the condition is because it might be occurring de novo in that individual. This means that the mutation occurred for the first time in the affected person, and that neither of the parents have the same change in the gene. 

In a few very rare cases, oculodentodigital dysplasia has been inherited in an autosomal recessive manner. This means that an individual needs two mutations in the GJA1 gene to have symptoms of the conditions. People with only one mutation in the GJA1 gene are known as carriers and do not have symptoms of the condition.[1] 
Last updated: 2/19/2017
A diagnosis of oculodentodigital dysplasia is based on a clinical examination that causes a doctor to suspect the condition. Molecular genetic testing which analyzes the GJA1 gene to search for mutations is then used to confirm the diagnosis.[2] 
Last updated: 2/19/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
After a person is diagnosed with oculodentodigital dysplasia, there are a number of steps that can be taken in order to monitor other symptoms that may develop or to improve symptoms that are already occurring. For example, surgery may be recommended to correct syndactyly of the fingers or to remove bony growths. Possible treatments for conditions of the eye include wearing a patch over an eye that has correctly working muscles in order to strengthen the muscles of the other eye. A medication called oculinum (Botox) may also be injected around the eyes in older patients to correct strabismus. Your doctor may recommend frequent eye exams to check for glaucoma and vision loss.[2][4]

Treatment to correct dental findings may include placing crowns on the teeth. Frequent dental visits to watch for changes are also recommended. Finally, your doctor may also recommend neurological and hearing exams, as these issues are more common in people affected by oculodentodigital dysplasia.[6]
Last updated: 2/19/2017

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

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes a wide number of syndromes that present with skeletal, ocular, dental and neurological manifestations.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Oculodentodigital dysplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

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

  • Genetics Home Reference (GHR) contains information on Oculodentodigital dysplasia. This website is maintained by the National Library of Medicine.
  • 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. 
  • 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 Oculodentodigital dysplasia. 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.

  1. Oculodentodigital dysplasia. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia. Accessed 1/26/2011.
  2. Oculodentodigital dysplasia. Orphanet. 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2710. Accessed 1/26/2011.
  3. Doshi DC, Limdi PK, Parekh NV, and Gohil NR. Oculodentodigital dysplasia. Indian Journal of Ophthalmology. March 2016; 64(3):227-230. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869463/.
  4. Oculo-Dento-Digital Dysplasia. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Oculo-Dento-Digital%20Dysplasia. Accessed 1/26/2011.
  5. Sabah M and Zeman A. Oculo-Dento-Digital Dysplasia (ODDD). Advances in Clinical Neuroscience and Rehabilitation. September 23, 2013; 13(5):16-17. http://www.acnr.co.uk/2013/09/oculo-dento-digital-dysplasia-oddd/ [6] Oculodentodigital.
  6. Oculodentodigital dysplasia; ODDD. Online Mendelian Inheritance in Man; August 22, 2016; https://www.omim.org/entry/164200.