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trigonocephaly-short stature-developmental delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trigonocephaly-short stature-developmental delay syndrome

MONDO:0010749

Also known as:Say-Meyer syndrometrigonocephaly with short stature and developmental delaytrigonocephaly, short stature and developmental delay

Overview

A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.

GeneticsX-linked

ResearchLimited published research (1 article)

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 very common findings: Short stature, Trigonocephaly, and Global developmental delay; and common findings: Epicanthus, Narrow forehead, Wide nasal bridge, and Inguinal hernia and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Lambdoidal craniosynostosis, Sagittal craniosynostosis, High palate

Prognosis

Phenotype severity distribution: 3 very common features, 20 common 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 trigonocephaly-short stature-developmental delay syndrome.

1 publication has been identified in PubMed for trigonocephaly-short stature-developmental delay syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Ash AS (2024). [PMID: 38919239](https://pubmed.ncbi.nlm.nih.gov/38919239/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:314320

Orphanet

European rare disease database

Orphanet:3369

GARD

Genetic and Rare Diseases Info Center

GARD:243

Questions for Your Care Team

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trigonocephaly-short stature-developmental delay 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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