/ichthyosis-oral and digital anomalies syndrome

ichthyosis-oral and digital anomalies syndrome

Rare Disease

MONDO:0009792

Also Known As

Clayton Smith-Donnai syndromeichthyosis tapered fingers midline groove uporal and digital anomalies with ichthyosisunusual facies, digital abnormalities, and ichthyosis

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.