Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

thymic-renal-anal-lung dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thymic-renal-anal-lung dysplasia

MONDO:0010129

Also known as:syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)

Overview

This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.

GeneticsAutosomal recessive

ResearchLimited published research (3 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: Oligohydramnios, Abnormality of the endocrine system, Anal atresia, and Ureteral agenesis and 5 more.

Organ System	Phenotype Count	Example Features
Hormones	1	Abnormality of the endocrine system
Metabolism

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 thymic-renal-anal-lung dysplasia.

3 publications have been identified in PubMed for thymic-renal-anal-lung dysplasia. Research spans Review / Meta-Analysis (67%) and Clinical Trial Publication (33%).

Recent Publications

Zhan Y (2025). [PMID: 39902276](https://pubmed.ncbi.nlm.nih.gov/39902276/). *Neurol Genet*. [Review / Meta-Analysis]
Khawand C (2025). [PMID: 40847681](https://pubmed.ncbi.nlm.nih.gov/40847681/). *Ultrasound Obstet Gynecol*. [Clinical Trial Publication]
Rikitake R (2025). [PMID: 40376725](https://pubmed.ncbi.nlm.nih.gov/40376725/). *Pathol Int*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274265

Orphanet

European rare disease database

Orphanet:3326

GARD

Genetic and Rare Diseases Info Center

GARD:5202

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?

← Back to All Diseases

thymic-renal-anal-lung dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features