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macular coloboma-cleft palate-hallux valgus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macular coloboma-cleft palate-hallux valgus syndrome

MONDO:0009001

Also known as:coloboma of macula and skeletal anomalies

Overview

Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.

GeneticsAutosomal recessive

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: Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate, Sloping forehead, and Hypermetropia and 6 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Nystagmus, Macular coloboma
Bones and joints

Prognosis

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:216800

Orphanet

European rare disease database

Orphanet:91494

GARD

Genetic and Rare Diseases Info Center

GARD:16802

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?
→Is there a patient registry I should consider joining?

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macular coloboma-cleft palate-hallux valgus syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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