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facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

MONDO:0016031

Also known as:Friedman-Goodman syndromefaces syndromefacial features (unique), anorexia, cachexia, eye and skin anomalies

Overview

Diagnosis

Biomarker and diagnostic research for facial dysmorphism-anorexia-cachexia-eye and skin 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 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome.

114 publications have been identified in PubMed for facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome. Kisho has analyzed 30 by research type. Research spans Case Report / Case Series (37%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	11

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1969

GARD

Genetic and Rare Diseases Info Center

GARD:2221

Questions for Your Care Team

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facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications