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ichthyosis-oral and digital anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis-oral and digital anomalies syndrome

MONDO:0009792

Also known as:Clayton Smith-Donnai syndromeichthyosis tapered fingers midline groove uporal and digital anomalies with ichthyosis

Overview

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.

Diagnosis

Biomarker and diagnostic research for ichthyosis-oral and digital anomalies syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ichthyosis-oral and digital anomalies syndrome.

300 publications have been identified in PubMed for ichthyosis-oral and digital anomalies syndrome. Kisho has analyzed 63 by research type. Research spans Review / Meta-Analysis (41%), Case Report / Case Series (21%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Research summaries	26	41%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:258840

Orphanet

European rare disease database

Orphanet:2272

GARD

Genetic and Rare Diseases Info Center

GARD:2960

Questions for Your Care Team

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ichthyosis-oral and digital anomalies syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications