What is Oculodentodigital Dysplasia?
Oculodentodigital Dysplasia is a rare genetic syndrome that mainly affects the eyes, teeth, and fingers of the body.
This syndrome is also known as:
Meyer-Schwickerath syndrome; Oculo-dento-osseous syndrome; Oculodentoosseous Dysplasia; ODOD; Oculodentoosseoussyndrome; ODD Syndrome; ODDD
What gene changes cause Oculodentodigital Dysplasia?
Changes in the GJA1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern however most cases of the syndrome are the result of a de novo or new mutation.
In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
What are the main symptoms of Oculodentodigital Dysplasia?
Eye issues are a main symptom of the syndrome. Individuals with the syndrome will usually have small, slanted, and widely spaced eyes. Crossed eyes and glaucoma are also common ocular issues. In some cases, they may cause vision loss.
Issues related to the teeth include the presence of small teeth. Individuals may also have missing teeth and weak enamel. This causes problems with dental health as well.
Symptoms related to the fingers and toes include growths in the hands and webbing of the 4th and 5th fingers or toes. They may also have curved fingers and nails that are more brittle than normal.
Other facial features of the syndrome include a thin nose and a small head. Hair growth may also be affected leading to more sparse hair in individuals with the syndrome.
Possible clinical traits/features:
Autosomal dominant inheritance, Paraparesis, Seizure, Taurodontia, Hypoplasia of dental enamel, Underdeveloped nasal alae, Glaucoma, Fragile nails, Short middle phalanx of the 5th finger, Hyperactive deep tendon reflexes, Cubitus valgus, Microcornea, Cleft upper lip, Epicanthus, Hip dislocation, Conductive hearing impairment, Dysarthria, Fine hair, Microcephaly, Slow-growing hair, Tetraparesis, Dry hair, Spasticity, Selective tooth agenesis, Clinodactyly, Vertebral hyperostosis, Premature loss of teeth, Thin anteverted nares, Sparse hair, Joint contracture of the 5th finger, Intellectual disability, Microdontia, Microphthalmia, Neurogenic bladder, Narrow nasal bridge, 4-5 finger syndactyly, 3-4 toe syndactyly, Arrhythmia, Abnormality of the pinna, Broad alveolar ridges, Cataract, Carious teeth, Atrial septal defect, Basal ganglia calcification, Blepharophimosis, Abnormality of the cerebral white matter, Ataxia, Cleft palate.
How is it diagnosed?
To find out if someone has a diagnosis of Oculodentodigital Dysplasia, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
