Ichthyosis-oral and digital anomalies syndrome

Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.

Also known as: Clayton Smith-Donnai syndrome, ichthyosis tapered fingers midline groove up, oral and digital anomalies with ichthyosis, unusual facies, digital abnormalities, and ichthyosis

3 clinical trials for this condition and its sub-types, 0 tagged with Ichthyosis-oral and digital anomalies syndrome itself.