Oculodentodigital dysplasia

Common Name(s)

Oculodentodigital dysplasia

Oculodentodigital dysplasia (ODDD) is a rare genetic disorder affecting the eyes (oculo-), teeth (dento-), and fingers or toes (digital). Individuals with ODDD may be born with small eyes or other eye abnormalities that cause vision loss, small teeth that have a weak outer layer (enamel), and extra skin (webbing) between the fingers or toes (syndactyly). Other features of the condition include abnormal hair growth (hypotrichosis), brittle nails, small head size (microcephaly), abnormally stiff muscles (spasticity), and hearing loss. Some features of the condition can be noticed right at birth while others are more obvious as a person ages.

ODDD is caused by a mutation (change) in the GJA1 gene. This gene provides the instructions for the body to make a protein called connexin43, which is an important part of the physical connection between cells, called gap junctions. Gap junctions allow for communication between adjacent cells that is necessary for cells to grow and develop. When the GJA1 gene is mutated, the gap junction is not made properly and cells can’t communicate with each other, causing the symptoms associated with ODDD.

ODDD can be inherited in an autosomal dominant or autosomal recessive manner, but most cases are autosomal dominant. If a person has the autosomal dominant form of ODDD, only one mutated copy of the GJA1 gene is enough to cause ODDD. A person with the autosomal recessive form of the condition has mutations in both copies of the GJA1 gene. A diagnosis of ODDD is considered in a person with the physical features of the condition, but genetic testing is used to confirm the diagnosis. Treatment options vary depending on symptoms. If your child has been diagnosed with ODDD, talk with your doctor about the current treatment options. Genetic counselors and support groups are also a good source of information.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculodentodigital dysplasia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Oculodentodigital dysplasia" returned 19 free, full-text research articles on human participants. First 3 results:

Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia.
 

Author(s): Sameh Mosaed, Bradley H Jacobsen, Ken Young Lin

Journal:

 

Diagnostic and surgical management of severe chronic angle- closure glaucoma secondary to ciliary body cysts can be difficult to manage in a patient with oculodentodigital dysplasia.

Last Updated: 8 Jan 2016

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Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
 

Author(s): Lynn M Boyden, Brittany G Craiglow, Jing Zhou, Ronghua Hu, Erin C Loring, Kimberly D Morel, Christine T Lauren, Richard P Lifton, Kaya Bilguvar, , Amy S Paller, Keith A Choate

Journal: J. Invest. Dermatol.. 2015 Jun;135(6):1540-7.

 

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches ...

Last Updated: 12 May 2015

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Clinical manifestations of oculodentodigital dysplasia.
 

Author(s): Gurusamy Kayalvizhi, Balaji Subramaniyan, Gurusamy Suganya

Journal: J Indian Soc Pedod Prev Dent. ;32(4):350-2.

 

Oculodentodigital dysplasia (ODDD) is a multisystem congenital disorder characterized by abnormal facial development, deformed limbs and dentition. This report describes a rare incidence of ODDD-linked dermatological, cardiac, dental, and neurologic manifestations noted in an Indian child patient.

Last Updated: 18 Sep 2014

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Reviews from the PubMed Database

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The terms "Oculodentodigital dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 19 Sep 2016

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Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms
 

Status: Recruiting

Condition Summary: Musculoskeletal Complications

 

Last Updated: 7 Apr 2016

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