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autosomal recessive amelia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive amelia

MONDO:0011054

Also known as:Amelia, posterior, with pelvic and pulmonary hypoplasia syndromeamelia, autosomal recessive

Overview

Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.

GeneticsAutosomal recessive · TBX4 (chr 17)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Amelia.

Explore clinical features

Genetic Landscape

TBX4 function has not been fully characterized.

Autosomal recessive amelia is associated with mutations in the TBX4 gene on chromosome 17.

Diagnosis

Genetic testing for TBX4 is available. Testing is considered confirmatory for diagnosis.

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 autosomal recessive amelia.

3 publications have been identified in PubMed for autosomal recessive amelia. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Chevallier L (2025). [PMID: 40131457](https://pubmed.ncbi.nlm.nih.gov/40131457/). *Mamm Genome*. [Basic Science / Preclinical]
Umar M (2025). [PMID: 40746736](https://pubmed.ncbi.nlm.nih.gov/40746736/). *Genes Dis*. [Review / Meta-Analysis]
Ilori EO (2025). [PMID: 40008593](https://pubmed.ncbi.nlm.nih.gov/40008593/). *Pediatr Dev Pathol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601360

Orphanet

European rare disease database

Orphanet:1027

GARD

Genetic and Rare Diseases Info Center

GARD:16554

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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autosomal recessive amelia

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team