Ichthyosis-oral and digital anomalies syndrome
Ichthyosis-oral and digital anomalies syndrome
Definition
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 — per MONDO