Abstract
Oculodentodigital dysplasia (ODDD) is a complex malformation syndrome exhibiting distinct craniofacial and limb anomalies. Syndactyly involving digits IV and V, which has also been termed syndactyly III, is the most common feature in this condition. However, additional digits may be involved. Affected individuals have a characteristic facial appearance with a pinched, narrow nose and/or hypoplastic alae nasi. The teeth are often small and carious due to enamel hypoplasia. Selective tooth agenesis and microdontia may be present. Typical eye findings include microphthalmia, microcornea, cataracts, and anomalies of the iris. Neurological defects include dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures. Other features include conductive hearing loss, diffuse yellow-orange nonepidermolytic hyperkeratosis on the palms and soles, and fine, dry, sparse, slow-growing hair. An autosomal recessive variant of ODDD exists with a similar but more severe phenotype.
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References
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Mundlos, S., Horn, D. (2014). Oculodentodigital Dysplasia. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_27
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DOI: https://doi.org/10.1007/978-3-540-95928-1_27
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