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

whistling face syndrome, recessive form - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

whistling face syndrome, recessive form

MONDO:0010197

Overview

GeneticsAutosomal recessive

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: Epicanthus, Long philtrum, Inguinal hernia, and Narrow mouth and 23 more.

Organ System	Phenotype Count	Example Features
Muscles	3	Shoulder flexion contracture, Knee flexion contracture, Elbow flexion contracture
Arms and legs

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 whistling face syndrome, recessive form.

4 publications have been identified in PubMed for whistling face syndrome, recessive form. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Pilarczyk R (2025). [PMID: 41227423](https://pubmed.ncbi.nlm.nih.gov/41227423/). *Animals : an open access journal from MDPI*. [Review / Meta-Analysis]
Ki SH (2024). [PMID: 38977395](https://pubmed.ncbi.nlm.nih.gov/38977395/). *Archives of craniofacial surgery*. [Review / Meta-Analysis]
Liberton DK (2024). [PMID: 38791829](https://pubmed.ncbi.nlm.nih.gov/38791829/). *International journal of environmental research and public health*. [Epidemiology / Natural History]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel, Switzerland)*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:277720

GARD

Genetic and Rare Diseases Info Center

GARD:10024

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

whistling face syndrome, recessive form

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features