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pelvic dysplasia-arthrogryposis of lower limbs syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pelvic dysplasia-arthrogryposis of lower limbs syndrome

MONDO:0011235

Also known as:Ray-Peterson-Scott syndromepelvic dysplasia arthrogryposis of lower limbspelvic hypoplasia with LOWER-limb arthrogryposis

Overview

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 always present findings: Sideways curvature of the spine (scoliosis), Short stature, Enlarged muscles along the spine (paraspinal muscle hypertrophy), and Narrow pelvis bone and others; and very common findings: Knee flexion contracture, Scapular winging, Hip contracture, and Narrow chest and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Knee flexion contracture, Enlarged muscles along the spine (paraspinal muscle hypertrophy), Hip contracture

Diagnosis

Biomarker and diagnostic research for pelvic dysplasia-arthrogryposis of lower limbs syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 10 very common features, 4 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 pelvic dysplasia-arthrogryposis of lower limbs syndrome.

183 publications have been identified in PubMed for pelvic dysplasia-arthrogryposis of lower limbs syndrome. Kisho has analyzed 89 by research type. Research spans Case Report / Case Series (39%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	35	39%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 1:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602484

Orphanet

European rare disease database

Orphanet:2840

GARD

Genetic and Rare Diseases Info Center

GARD:4269

Questions for Your Care Team

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Kisho

pelvic dysplasia-arthrogryposis of lower limbs syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pelvic dysplasia-arthrogryposis of lower limbs syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications