What are the potential complications of Ohdo syndrome and variants?

Information about complications related to Ohdo syndrome and variants is currently limited. As more research is conducted, we hope to learn more about how this condition may affect individuals over time. It's important to stay in touch with healthcare providers for updates and support.

How might Ohdo syndrome and variants affect daily life?

Daily life for someone with Ohdo syndrome and variants can vary greatly, as specific impacts are not fully understood yet. Families may need to adapt routines and seek support for any challenges that arise. Staying connected with healthcare professionals can help manage daily activities effectively.

What is the life expectancy for someone with Ohdo syndrome and variants?

Currently, there is limited information about the life expectancy of individuals with Ohdo syndrome and variants. As research continues, we hope to gain a clearer understanding of the long-term outlook for those affected. Regular check-ups with healthcare providers can help monitor health over time.

Are there any specialists recommended for managing Ohdo syndrome and variants?

At this time, specific recommendations for specialists who manage Ohdo syndrome and variants are not available. However, it may be helpful to consult with geneticists or specialists in rare diseases for guidance. They can provide support and resources tailored to individual needs.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Ohdo syndrome and variants - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Ohdo syndrome and variants

MONDO:0000734

Also known as:Ohdo blepharophimosis syndromeOhdo syndrome

Find Clinical TrialsTrials

Overview

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (7 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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

FG Syndrome Type 1 (FGS1)

FGS1 is an X-linked disorder associated with intellectual disability, hypotonia, relative macrocephaly, broad and flat thumbs, and imperforate anus. The clinical phenotype attributed to FGS1 has widened since the initial description. Many of the clinical features in individuals reported to have FGS1 are nonspecific and may lead to overdiagnosis . Craniofacial. The most characteristic craniofacial feature is small, simple ears. Other common craniofacial features in individuals with FGS1 include dolichocephaly, frontal hair upsweep, tall forehead, downslanted palpebral fissures, and widely spaced eyes . High arched palate, micrognathia, open mouth, narrow auditory canals, fullness of the upper eyelids, and craniosynostosis have also been described . Growth.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

An MED12-related disorder should be suspected in an individual with a phenotype associated with FG syndrome type 1, Lujan syndrome, X-linked Ohdo syndrome, or Hardikar syndrome, or with nonspecific intellectual disability with overlapping features of an MED12-related disorder. FG syndrome type 1 (FGS1). Formal clinical diagnostic criteria for FGS1 have not been established; however, the following clinical features would be suggestive:

Source: GeneReviews — "MED12-Related Disorders"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Ohdo syndrome and variants. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with an MED12-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with MED12-Related Disorders

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with MED12-Related Disorders

System/Concern

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for Ohdo syndrome and variants. Research spans Basic Science / Preclinical (57%), Case Report / Case Series (29%), and Review / Meta-Analysis (14%).

Recent Publications

Warmoeskerken T (2026). [PMID: 41821414](https://pubmed.ncbi.nlm.nih.gov/41821414/). *Am J Med Genet A*. [Review / Meta-Analysis]
Ura H (2025). [PMID: 39986018](https://pubmed.ncbi.nlm.nih.gov/39986018/). *Stem Cell Res*. [Basic Science / Preclinical]
Ura H (2025). [PMID: 39986017](https://pubmed.ncbi.nlm.nih.gov/39986017/). *Stem Cell Res*. [Basic Science / Preclinical]
Bergamasco MI (2025). [PMID: 39832706](https://pubmed.ncbi.nlm.nih.gov/39832706/). *Dev Biol*. [Basic Science / Preclinical]
Kao EC (2025). [PMID: 39215511](https://pubmed.ncbi.nlm.nih.gov/39215511/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Ohdo syndrome and variants

Ohdo syndrome and variants is a rare disease. Detailed information about this condition is currently limited in medical literature.

Information about this topic is currently limited for Ohdo syndrome and variants. As more research becomes available, this section will be updated.

Information about this topic is currently limited for Ohdo syndrome and variants. As more research becomes available, this section will be updated. Associated genes include KAT6B, MED12.

← Back to All Diseases

Kisho

Ohdo syndrome and variants

Overview

Clinical Presentation

Clinical Guidance

FG Syndrome Type 1 (FGS1)

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

EP300

Therapies Under Investigation

Clinical Trials

Ohdo syndrome and variants

Overview

Clinical Presentation

Clinical Guidance

FG Syndrome Type 1 (FGS1)

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Ohdo syndrome and variants?

What are the symptoms of Ohdo syndrome and variants?

What causes Ohdo syndrome and variants?

How is Ohdo syndrome and variants diagnosed?

Are there treatments for Ohdo syndrome and variants?

What are the potential complications of Ohdo syndrome and variants?

How might Ohdo syndrome and variants affect daily life?

What is the life expectancy for someone with Ohdo syndrome and variants?

Are there any specialists recommended for managing Ohdo syndrome and variants?

Differential Diagnosis

EP300

Therapies Under Investigation

Clinical Trials