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oculodentodigital dysplasia, autosomal recessive

Disease Summary
Associated Targets (1)


Mondo Description Autosomal recessive form of oculodentodigital dysplasia.
Uniprot Description A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Mondo Term and Equivalent IDs
MONDO:0009768:  oculodentodigital dysplasia, autosomal recessive