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tetraamelia syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetraamelia syndrome 1

MONDO:0060764

Also known as:Tetra-amelia syndrome 1TETAMS1tetraamelia syndrome, autosomal recessive

Overview

GeneticsAutosomal recessive · WNT3 (chr 17)

ResearchLimited published research (1 article)

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: Tetraamelia and Absent external genitalia; and common findings: Anal atresia, Urethral atresia, Single umbilical artery, and Cataract and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia

Genetic Landscape

WNT3 function has not been fully characterized.

Tetraamelia syndrome 1 is associated with mutations in the WNT3 gene on chromosome 17.

Diagnosis

Genetic testing for WNT3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 17 common features.

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 tetraamelia syndrome 1.

1 publication has been identified in PubMed for tetraamelia syndrome 1. Research spans Case Report / Case Series (100%).

Recent Publications

Belay EA (2024). [PMID: 39781241](https://pubmed.ncbi.nlm.nih.gov/39781241/). *Case Rep Obstet Gynecol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:273395

GARD

Genetic and Rare Diseases Info Center

GARD:15238

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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tetraamelia syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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