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solitary median maxillary central incisor syndrome (SMMCI) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

solitary median maxillary central incisor syndrome

MONDO:0007819

Also known as:SMMCIsingle median maxillary central incisorsingle upper central incisor

Overview

A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.

GeneticsAutosomal dominant · SHH (chr 7)

ResearchLimited published research (8 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 always present findings: Prominent median palatal raphe and Solitary median maxillary central incisor; and common findings: Microcephaly, Choanal atresia, Short stature, and Holoprosencephaly and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Solitary median maxillary central incisor, Cleft upper lip

Genetic Landscape

SHH function has not been fully characterized.

Solitary median maxillary central incisor syndrome is associated with mutations in the SHH gene on chromosome 7.

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.

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

Biomarker and diagnostic research for solitary median maxillary central incisor syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 8 common features.

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 solitary median maxillary central incisor syndrome.

8 publications have been identified in PubMed for solitary median maxillary central incisor syndrome. Research spans Case Report / Case Series (63%), Diagnostic / Biomarker (13%), and Clinical Trial Publication (13%).

Recent Publications

Makrygiannakis MA (2026). [PMID: 41061331](https://pubmed.ncbi.nlm.nih.gov/41061331/). *Int Orthod*. [Case Report / Case Series]
Anitua E (2025). [PMID: 40277474](https://pubmed.ncbi.nlm.nih.gov/40277474/). *Dent J (Basel)*. [Clinical Trial Publication]
Cieślińska K (2025). [PMID: 41597019](https://pubmed.ncbi.nlm.nih.gov/41597019/). *Children (Basel)*. [Case Report / Case Series]
Isaabadi M (2025). [PMID: 41492563](https://pubmed.ncbi.nlm.nih.gov/41492563/). *Front Dent*. [Case Report / Case Series]
Shima H (2025). [PMID: 39777126](https://pubmed.ncbi.nlm.nih.gov/39777126/). *Clin Pediatr Endocrinol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:147250

Orphanet

European rare disease database

Orphanet:2286

GARD

Genetic and Rare Diseases Info Center

GARD:4877

Questions for Your Care Team

→Should I pursue genetic testing for SHH, and what would the results mean for my family?
→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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solitary median maxillary central incisor syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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