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delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

MONDO:0008445

Also known as:Mehes syndromedelayed speech development, facial asymmetry, strabismus, and transverse ear lobe creasesspeech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE

Overview

This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.

GeneticsAutosomal dominant

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: Unilateral narrow palpebral fissure, Long philtrum, Strabismus, and Delayed speech and language development and 5 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Unilateral ptosis
Brain and nerves

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 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome.

3 publications have been identified in PubMed for delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

van Oirsouw ASE (2025). [PMID: 40420380](https://pubmed.ncbi.nlm.nih.gov/40420380/). *Hum Mol Genet*. [Basic Science / Preclinical]
Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Hum Genomics*. [Review / Meta-Analysis]
Li S (2024). [PMID: 39500882](https://pubmed.ncbi.nlm.nih.gov/39500882/). *NPJ Genom Med*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 8:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182875

Orphanet

European rare disease database

Orphanet:3038

GARD

Genetic and Rare Diseases Info Center

GARD:3449

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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