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arthrogryposis-severe scoliosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis-severe scoliosis syndrome

MONDO:0012195

Also known as:distal arthrogryposis type 4distal arthrogryposis type IIDDA4

Overview

Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.

GeneticsAutosomal dominant

OnsetCONGENITAL

ResearchLimited published research (7 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: 2-5 finger cutaneous syndactyly, Low posterior hairline, Deviation of the 2nd toe, and Severe intellectual disability and 20 more.

Organ System	Phenotype Count	Example Features
Arms and legs	5	2-5 finger cutaneous syndactyly, Deviation of the 2nd toe, Fibular deviation of toes

Diagnosis

Biomarker and diagnostic research for arthrogryposis-severe scoliosis syndrome has been reported in the published literature.

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-severe scoliosis syndrome.

215 publications have been identified in PubMed for arthrogryposis-severe scoliosis syndrome. Kisho has analyzed 7 by research type. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Kido J (2026). [PMID: 41826296](https://pubmed.ncbi.nlm.nih.gov/41826296/). *Hum Genome Var*. [Basic Science / Preclinical]
Smith-Voudouris J (2026). [PMID: 41520309](https://pubmed.ncbi.nlm.nih.gov/41520309/). *Spine Deform*. [Epidemiology / Natural History]
Charng WL (2025). [PMID: 40306904](https://pubmed.ncbi.nlm.nih.gov/40306904/). *J Med Genet*. [Epidemiology / Natural History]
Natera-de Benito D (2024). [PMID: 38833907](https://pubmed.ncbi.nlm.nih.gov/38833907/). *Pediatr Neurol*. [Case Report / Case Series]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609128

Orphanet

European rare disease database

Orphanet:65720

GARD

Genetic and Rare Diseases Info Center

GARD:16672

Questions for Your Care Team

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arthrogryposis-severe scoliosis syndrome

Overview

Clinical Presentation

Diagnosis

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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