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flat face-microstomia-ear anomaly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

flat face-microstomia-ear anomaly syndrome

MONDO:0008421

Also known as:Simosa-Penchaszadeh-Bustos syndromeblepharophimosis-telecanthus-microstomia syndromeSIMOSA craniofacial syndrome

Overview

Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.

GeneticsAutosomal dominant

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: Abnormal hair morphology, Long philtrum, Inguinal hernia, and Narrow mouth and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Flat face, Long face, High, narrow palate

Diagnosis

Biomarker and diagnostic research for flat face-microstomia-ear anomaly syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 20 always present 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 flat face-microstomia-ear anomaly syndrome.

145 publications have been identified in PubMed for flat face-microstomia-ear anomaly syndrome. Research spans Review / Meta-Analysis (51%), Case Report / Case Series (27%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Research summaries	59	51%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182150

Orphanet

European rare disease database

Orphanet:1968

GARD

Genetic and Rare Diseases Info Center

GARD:4873

Questions for Your Care Team

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flat face-microstomia-ear anomaly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

flat face-microstomia-ear anomaly syndrome

Overview

Clinical Presentation

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