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Features include always present findings: Choanal atresia; and common findings: Lymphedema. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | High palate |
Heart and blood vessels |
PTPN14 function has not been fully characterized.
Lymphedema-posterior choanal atresia syndrome is associated with mutations in the PTPN14 gene on chromosome 1.
Genetic testing for PTPN14 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for lymphedema-posterior choanal atresia syndrome.
28 publications have been identified in PubMed for lymphedema-posterior choanal atresia syndrome. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 16 | 57% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Pericardial effusion |
Skin | 1 | Lymphedema |
Age of onset: childhood, at birth.
Research summaries
7 |
25% |
Disease patterns and progression | 4 | 14% |
Laboratory research | 1 | 4% |
Park RK (2026). [PMID: 41637834](https://pubmed.ncbi.nlm.nih.gov/41637834/). *Int J Pediatr Otorhinolaryngol*. [Epidemiology / Natural History]
Waller DK (2026). [PMID: 42089396](https://pubmed.ncbi.nlm.nih.gov/42089396/). *Birth Defects Res*. [Epidemiology / Natural History]
Rozenblat T (2026). [PMID: 40888487](https://pubmed.ncbi.nlm.nih.gov/40888487/). *Am J Rhinol Allergy*. [Epidemiology / Natural History]
Esperas A (2025). [PMID: 39306781](https://pubmed.ncbi.nlm.nih.gov/39306781/). *J Pediatr Health Care*. [Case Report / Case Series]
Taha O (2025). [PMID: 41208733](https://pubmed.ncbi.nlm.nih.gov/41208733/). *J Pediatr Orthop*. [Epidemiology / Natural History]
Köhler PC (2025). [PMID: 41007109](https://pubmed.ncbi.nlm.nih.gov/41007109/). *Children (Basel)*. [Case Report / Case Series]
Robin B (2025). [PMID: 40449923](https://pubmed.ncbi.nlm.nih.gov/40449923/). *Neoreviews*. [Review / Meta-Analysis]
Kaya E (2025). [PMID: 40910928](https://pubmed.ncbi.nlm.nih.gov/40910928/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Buasri K (2025). [PMID: 40803816](https://pubmed.ncbi.nlm.nih.gov/40803816/). *J Med Genet*. [Review / Meta-Analysis]
Asensi-Diaz M (2025). [PMID: 40945678](https://pubmed.ncbi.nlm.nih.gov/40945678/). *Acta Otorrinolaringol Esp (Engl Ed)*. [Case Report / Case Series]