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tetraamelia syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetraamelia syndrome 2

MONDO:0060732

Also known as:TETAMS2tetraamelia syndrome 2 with pulmonary agenesis

Overview

GeneticsAutosomal recessive · RSPO2 (chr 8)

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 always present findings: Amelia; and very common findings: Cleft palate. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Hypoplastic pulmonary veins, Bilateral lung agenesis
Head and neck

Genetic Landscape

RSPO2 function has not been fully characterized.

Tetraamelia syndrome 2 is associated with mutations in the RSPO2 gene on chromosome 8.

Diagnosis

Genetic testing for RSPO2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 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 2.

2 publications have been identified in PubMed for tetraamelia syndrome 2. Research spans Case Report / Case Series (100%).

Recent Publications

Valientes SDA (2026). [PMID: 41751561](https://pubmed.ncbi.nlm.nih.gov/41751561/). *Genes (Basel)*. [Case Report / Case Series]
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, 5:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618021

GARD

Genetic and Rare Diseases Info Center

GARD:16286

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 2

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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