Oculodentodigital Dysplasia
Oculodentodigital dysplasia is a rare genetic disorder caused by mutation in gap junction alpha gene that encodes connexin 43 protein. It has been diagnosed in <300 people worldwide, and the incidence is 1 in 10 million populations. It is a multisystem disorder, affects many parts of the body, pa...
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| Main Author: | |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-01-01
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| Series: | Delhi Journal of Ophthalmology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/DLJO.DLJO_118_23 |
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| Summary: | Oculodentodigital dysplasia is a rare genetic disorder caused by mutation in gap junction alpha gene that encodes connexin 43 protein. It has been diagnosed in <300 people worldwide, and the incidence is 1 in 10 million populations. It is a multisystem disorder, affects many parts of the body, particularly eye (oculo), teeth (dental), fingers, and toe (digital), and less commonly involves skin appendages, brain, and spinal cord. Early recognition can prevent blindness, dental problems, and learning disabilities, and management is multidisciplinary. |
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| ISSN: | 0972-0200 2454-2784 |