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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015947
inherited ichthyosis
is_a
Clayton Smith-Donnai syndrome
exact
ichthyosis tapered fingers midline groove up
related
unusual facies, digital abnormalities, and ichthyosis
related