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Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Features include: Renal dysplasia, Torticollis, Pyelonephritis, and Nephritis and 7 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 3 | Renal dysplasia, Nephritis, Unilateral renal atrophy |
Muscles |
Biomarker and diagnostic research for torticollis-keloids-cryptorchidism-renal dysplasia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for torticollis-keloids-cryptorchidism-renal dysplasia syndrome.
309 publications have been identified in PubMed for torticollis-keloids-cryptorchidism-renal dysplasia syndrome. Kisho has analyzed 178 by research type. Research spans Review / Meta-Analysis (52%), Case Report / Case Series (19%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 93 | 52% |
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Unilateral renal atrophy |
Head and neck | 1 | Facial asymmetry |
Patient case studies |
34 |
19% |
Laboratory research | 24 | 13% |
Disease patterns and progression | 19 | 11% |
Testing and diagnosis research | 4 | 2% |
Clinical study results | 3 | 2% |
New treatment approaches | 1 | 1% |
Kotani S (2026). [PMID: 40728066](https://pubmed.ncbi.nlm.nih.gov/40728066/). *Histol Histopathol*. [Review / Meta-Analysis]
Keehan L (2026). [PMID: 41174928](https://pubmed.ncbi.nlm.nih.gov/41174928/). *Am J Med Genet A*. [Review / Meta-Analysis]
Wang J (2026). [PMID: 42006260](https://pubmed.ncbi.nlm.nih.gov/42006260/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Tafti D (2026). [PMID: 30422542](https://pubmed.ncbi.nlm.nih.gov/30422542/). *Unknown Journal*. [Basic Science / Preclinical]
Saber AY (2026). [PMID: 33085428](https://pubmed.ncbi.nlm.nih.gov/33085428/). *Unknown Journal*. [Basic Science / Preclinical]
Karsonovich T (2026). [PMID: 30422477](https://pubmed.ncbi.nlm.nih.gov/30422477/). *Unknown Journal*. [Epidemiology / Natural History]
Creignou M (2026). [PMID: 41651099](https://pubmed.ncbi.nlm.nih.gov/41651099/). *Semin Cancer Biol*. [Review / Meta-Analysis]
Roche-Gomez A (2026). [PMID: 41775349](https://pubmed.ncbi.nlm.nih.gov/41775349/). *Arch Esp Urol*. [Clinical Trial Publication]
Schumaier NP (2026). [PMID: 39531587](https://pubmed.ncbi.nlm.nih.gov/39531587/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Ngulube MM (2026). [PMID: 40198060](https://pubmed.ncbi.nlm.nih.gov/40198060/). *Unknown Journal*. [Diagnostic / Biomarker]
AI-curated news mentioning torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Updated Aug 13, 2026
A recent study published in PubMed explores the clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome within a chronic kidney disease cohort. This research provides valuable insights into the genetic underpinnings of this rare syndrome.