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lethal congenital contracture syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 3

MONDO:0012656

Also known as:Israeli Bedouin type B multiple contracture syndromeLCCS3PIP5K1C lethal congenital contracture syndrome

Overview

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

GeneticsAutosomal recessive · PIP5K1C (chr 19)

ResearchLimited published research (2 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: Skeletal muscle atrophy, Multiple joint contractures, Joint stiffness present at birth (arthrogryposis multiplex congenita), and Difficulty breathing (respiratory insufficiency).

Organ System	Phenotype Count	Example Features
Muscles	3	Skeletal muscle atrophy, Multiple joint contractures, Joint stiffness present at birth (arthrogryposis multiplex congenita)

Genetic Landscape

PIP5K1C function has not been fully characterized.

Lethal congenital contracture syndrome 3 is associated with mutations in the PIP5K1C gene on chromosome 19.

Diagnosis

Genetic testing for PIP5K1C is available. Testing is considered confirmatory for diagnosis.

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 lethal congenital contracture syndrome 3.

2 publications have been identified in PubMed for lethal congenital contracture syndrome 3. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Dafsari HS (2025). [PMID: 39420677](https://pubmed.ncbi.nlm.nih.gov/39420677/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Tamhankar PM (2025). [PMID: 40182349](https://pubmed.ncbi.nlm.nih.gov/40182349/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611369

Orphanet

European rare disease database

Orphanet:137783

GARD

Genetic and Rare Diseases Info Center

GARD:12644

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?

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lethal congenital contracture syndrome 3

Overview

Clinical Presentation

Genetic Landscape

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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