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dermochondrocorneal dystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dermochondrocorneal dystrophy

MONDO:0009094

Also known as:FranC'ois syndromeFrançois syndromeDCCD

Overview

Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.

GeneticsAutosomal recessive

Patient Orgs1 organizations · Cornea Research Foundation of America

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hand abnormalities (abnormality of the hand), Joint subluxation, Clouding of the cornea (corneal dystrophy), and Irregular tarsal ossification and 4 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Clouding of the cornea (corneal dystrophy), Anterior cortical cataract, Subepithelial corneal opacities

Prognosis

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Cornea Research Foundation of AmericaPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:221800

Orphanet

European rare disease database

Orphanet:79149

GARD

Genetic and Rare Diseases Info Center

GARD:1815

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Cornea Research Foundation of America and other patient organizations for support?

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dermochondrocorneal dystrophy

Overview

Clinical Presentation

Prognosis

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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