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Disease Profile

Oculodentodigital dysplasia

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.

Unknown

Age of onset

Infancy

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ICD-10

Q87.8

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-dento-digital dysplasia; Oculo-dento-digital syndrome; Oculodentodigital syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;

Summary

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]

Symptoms

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] 

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
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 clavicle morphology
Abnormal collarbone
0000889
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

Cause

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]

Diagnosis

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] 

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.

    Treatment

    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]

    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

      Organizations Providing General Support

        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

        • 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.

            References

            1. Oculodentodigital dysplasia. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia. Accessed 1/26/2011.
            2. Oculodentodigital dysplasia. Orphanet. 2010; https://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; https://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. https://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.

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