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
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome.
8 publications have been identified in PubMed for anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).
Chapagain L (2026). [PMID: 42078041](https://pubmed.ncbi.nlm.nih.gov/42078041/). *Clin Case Rep*. [Case Report / Case Series]
She L (2026). [PMID: 40797284](https://pubmed.ncbi.nlm.nih.gov/40797284/). *Journal of clinical ultrasound : JCU*. [Case Report / Case Series]
Mukhtar MA (2025). [PMID: 42232673](https://pubmed.ncbi.nlm.nih.gov/42232673/). *Pan Afr Med J*. [Case Report / Case Series]
Wang J (2025). [PMID: 40612668](https://pubmed.ncbi.nlm.nih.gov/40612668/). *Genes & diseases*. [Review / Meta-Analysis]
Graversen L (2024). [PMID: 39476951](https://pubmed.ncbi.nlm.nih.gov/39476951/). *European journal of medical genetics*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Maharjan L (2024). [PMID: 40654397](https://pubmed.ncbi.nlm.nih.gov/40654397/). *JNMA; journal of the Nepal Medical Association*. [Case Report / Case Series]
Baskar D (2024). [PMID: 39238562](https://pubmed.ncbi.nlm.nih.gov/39238562/). *Global medical genetics*. [Basic Science / Preclinical]
Bouhmidi M (2024). [PMID: 38854225](https://pubmed.ncbi.nlm.nih.gov/38854225/). *Cureus*. [Case Report / Case Series]