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Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Biomarker and diagnostic research for Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome.
286 publications have been identified in PubMed for Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome. Kisho has analyzed 222 by research type. Research spans Review / Meta-Analysis (39%), Case Report / Case Series (30%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 87 | 39% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 7:40 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Patient case studies | 66 | 30% |
Laboratory research | 29 | 13% |
Disease patterns and progression | 24 | 11% |
Testing and diagnosis research | 9 | 4% |
Other research | 4 | 2% |
Clinical study results | 2 | 1% |
New treatment approaches | 1 | 0% |
Zhang Y (2026). [PMID: 41006948](https://pubmed.ncbi.nlm.nih.gov/41006948/). *J Clin Ultrasound*. [Case Report / Case Series]
Tana C (2026). [PMID: 41980458](https://pubmed.ncbi.nlm.nih.gov/41980458/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Serpieri V (2026). [PMID: 41720098](https://pubmed.ncbi.nlm.nih.gov/41720098/). *Am J Hum Genet*. [Basic Science / Preclinical]
Yami Channaiah C (2026). [PMID: 41611635](https://pubmed.ncbi.nlm.nih.gov/41611635/). *Clin Endocrinol (Oxf)*. [Review / Meta-Analysis]
Gaikaiwari R (2026). [PMID: 42096957](https://pubmed.ncbi.nlm.nih.gov/42096957/). *Eur J Obstet Gynecol Reprod Biol*. [Basic Science / Preclinical]
Schumaier NP (2026). [PMID: 39531587](https://pubmed.ncbi.nlm.nih.gov/39531587/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Chen N (2026). [PMID: 41233206](https://pubmed.ncbi.nlm.nih.gov/41233206/). *J Med Genet*. [Basic Science / Preclinical]
Xu D (2026). [PMID: 41232796](https://pubmed.ncbi.nlm.nih.gov/41232796/). *Exp Neurol*. [Basic Science / Preclinical]
Wu D (2026). [PMID: 41072814](https://pubmed.ncbi.nlm.nih.gov/41072814/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Graafen L (2026). [PMID: 41831046](https://pubmed.ncbi.nlm.nih.gov/41831046/). *J Clin Immunol*. [Diagnostic / Biomarker]
AI-curated news mentioning Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.