Otopalatodigital syndrome type 1

A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

Downslanted palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean.


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PMID (PMCID)