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arthrogryposis multiplex congenita-whistling face syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis multiplex congenita-whistling face syndrome

MONDO:0008825

Also known as:Illum syndromearthrogryposis multiplex congenita whistling facearthrogryposis, whistling face, and developintellectual disability

Overview

Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.

GeneticsAutosomal recessive

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: Calcinosis, Bradycardia, Excessive salivation, and Nervous system problems (abnormality of the nervous system) and 5 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Bradycardia
Brain and nerves

Prognosis

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 arthrogryposis multiplex congenita-whistling face syndrome.

8 publications have been identified in PubMed for arthrogryposis multiplex congenita-whistling face syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).

Recent Publications

Parra-Díaz P (2025). [PMID: 40048676](https://pubmed.ncbi.nlm.nih.gov/40048676/). *Neurology*. [Basic Science / Preclinical]
Henriksen JN (2025). [PMID: 40070362](https://pubmed.ncbi.nlm.nih.gov/40070362/). *Basic & clinical pharmacology & toxicology*. [Epidemiology / Natural History]
Kidwai SM (2025). [PMID: 41480702](https://pubmed.ncbi.nlm.nih.gov/41480702/). *Prague medical report*. [Case Report / Case Series]
Poling MI (2025). [PMID: 39776776](https://pubmed.ncbi.nlm.nih.gov/39776776/). *Clinical case reports*. [Case Report / Case Series]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel, Switzerland)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208155

Orphanet

European rare disease database

Orphanet:1150

GARD

Genetic and Rare Diseases Info Center

GARD:792

Questions for Your Care Team

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arthrogryposis multiplex congenita-whistling face 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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