Oculodentodigital dysplasia

Definition:

Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene.

References:

[1]. Maria Frasson, et al. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genet. 2004 Sep;25(3):227-36. [Content Brief]

[2]. William A Paznekas, et al. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May;30(5):724-33. [Content Brief]

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