Diseases title

Ichthyosis - oral and digital anomalies )

Sequencing2
Orpha Number: 2272
Synonym(s):
Clayton Smith-Donnai syndrome

This syndrome is characterised 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.
source: Orphanet