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microphthalmia, syndromic 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia, syndromic 12

MONDO:0014229

Also known as:RARB syndromic microphthalmiamicrophthalmia, syndromic type 12syndromic microphthalmia caused by mutation in RARB

Overview

Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.

GeneticsAutosomal recessive, Autosomal dominant · RARB (chr 3)

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: Bicornuate uterus, Congenital diaphragmatic hernia, and Intellectual disability; and very common findings: Pulmonary hypoplasia. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Cleft palate

Genetic Landscape

RARB function has not been fully characterized.

Microphthalmia, syndromic 12 is caused by mutations in the RARB gene on chromosome 3.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature.

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, syndromic 12.

18 publications have been identified in PubMed for microphthalmia, syndromic 12. Research spans Case Report / Case Series (61%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	11	61%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615524

Orphanet

European rare disease database

Orphanet:689829

GARD

Genetic and Rare Diseases Info Center

GARD:13235

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, syndromic 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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microphthalmia, syndromic 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications