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microcephaly-microcornea syndrome, Seemanova type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-microcornea syndrome, Seemanova type

MONDO:0016760

Also known as:Seemanova-Lesny syndromeX-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardationmicrocephaly microcornea syndrome Seemanova type

Overview

Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.

Diagnosis

Biomarker and diagnostic research for microcephaly-microcornea syndrome, Seemanova type has been reported in the published literature.

Prognosis

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 microcephaly-microcornea syndrome, Seemanova type.

100 publications have been identified in PubMed for microcephaly-microcornea syndrome, Seemanova type. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	61	67%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2528

GARD

Genetic and Rare Diseases Info Center

GARD:3627

Questions for Your Care Team

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microcephaly-microcornea syndrome, Seemanova type

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications