ichthyosis-oral and digital anomalies syndrome
MONDO:0009792Mondo
Findings
No curated finding names ichthyosis-oral and digital anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009792), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: ichthyosis-oral and digital anomalies syndrome
- Also called
- Clayton Smith-Donnai syndrome