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microphthalmia with limb anomalies (MLA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia with limb anomalies

MONDO:0008800

Also known as:MLAOASOphthalmoacromelic syndrome

Overview

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

GeneticsAutosomal recessive · SMOC1 (chr 14)

ResearchLimited published research (3 articles)

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 always present findings: Failure to thrive and Anophthalmia; and very common findings: Foot oligodactyly. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	8	Toe syndactyly, Finger aplasia, Foot oligodactyly

Genetic Landscape

SMOC1 function has not been fully characterized.

Microphthalmia with limb anomalies is associated with mutations in the SMOC1 gene on chromosome 14.

Diagnosis

Genetic testing for SMOC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 10 common features.

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 microphthalmia with limb anomalies.

3 publications have been identified in PubMed for microphthalmia with limb anomalies. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Dawood M (2025). [PMID: 40820231](https://pubmed.ncbi.nlm.nih.gov/40820231/). *J Hum Genet*. [Epidemiology / Natural History]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]
Ono M (2024). [PMID: 39510490](https://pubmed.ncbi.nlm.nih.gov/39510490/). *Gene Expr Patterns*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:206920

Orphanet

European rare disease database

Orphanet:1106

GARD

Genetic and Rare Diseases Info Center

GARD:722

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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microphthalmia with limb anomalies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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