Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

short stature-valvular heart disease-characteristic facies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-valvular heart disease-characteristic facies syndrome

MONDO:0007461

Also known as:disproportionate short stature with ptosis and valvular heart lesions

Overview

Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.

ResearchLimited published research (4 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 very common findings: Abnormality of the dentition, High palate, Ptosis, and Dental crowding and others; and sometimes findings: Low muscle tone (hypotonia).

Organ System	Phenotype Count	Example Features
Head and neck	2	High palate, Large face

Prognosis

Phenotype severity distribution: 13 very 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 short stature-valvular heart disease-characteristic facies syndrome.

4 publications have been identified in PubMed for short stature-valvular heart disease-characteristic facies syndrome. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

Alsahlawi Z (2025). [PMID: 39981487](https://pubmed.ncbi.nlm.nih.gov/39981487/). *Cureus*. [Case Report / Case Series]
Serra G (2025). [PMID: 39985057](https://pubmed.ncbi.nlm.nih.gov/39985057/). *Ital J Pediatr*. [Case Report / Case Series]
Tamhankar PM (2024). [PMID: 39421111](https://pubmed.ncbi.nlm.nih.gov/39421111/). *Cureus*. [Case Report / Case Series]
Padhiyar J (2024). [PMID: 38845651](https://pubmed.ncbi.nlm.nih.gov/38845651/). *Indian Dermatol Online J*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:126190

Orphanet

European rare disease database

Orphanet:2868

GARD

Genetic and Rare Diseases Info Center

GARD:16612

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

short stature-valvular heart disease-characteristic facies syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features