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PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.
Features include very common findings: Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Abnormality of the pulmonary artery, and Pulmonary artery hypoplasia and others; and common findings: Multicystic kidney dysplasia, Abnormal testis morphology, Ambiguous genitalia, and Abnormality of the uterus and others. 30 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 4 |
Biomarker and diagnostic research for PAGOD syndrome has been reported in the published literature.
Phenotype severity distribution: 5 very common features, 10 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for PAGOD syndrome.
90 publications have been identified in PubMed for PAGOD syndrome. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (16%), and Epidemiology / Natural History (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 49 | 56% |
Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 5:08 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about PAGOD syndrome
Lungs and breathing | 3 | Pulmonary hypoplasia, Abnormality of the pulmonary artery, Pulmonary artery hypoplasia |
Kidneys and urinary system | 2 | Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
Growth and development | 2 | Short stature, Asymmetric growth |
Pregnancy and birth | 1 | Congenital diaphragmatic hernia |
Head and neck | 1 | Microcephaly |
Eyes | 1 | Damage to the optic nerve (optic atrophy) |
Muscles | 1 | Damage to the optic nerve (optic atrophy) |
Digestive system | 1 | Spleen abnormalities (abnormality of the spleen) |
14 |
16% |
Disease patterns and progression | 10 | 11% |
Clinical study results | 5 | 6% |
Laboratory research | 5 | 6% |
Other research | 2 | 2% |
New treatment approaches | 2 | 2% |
Testing and diagnosis research | 1 | 1% |
Chansou MA (2026). [PMID: 41104659](https://pubmed.ncbi.nlm.nih.gov/41104659/). *Journal of pediatric gastroenterology and nutrition*. [Epidemiology / Natural History]
Peixoto J (2026). [PMID: 40675190](https://pubmed.ncbi.nlm.nih.gov/40675190/). *European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie*. [Review / Meta-Analysis]
Koga N (2026). [PMID: 42215426](https://pubmed.ncbi.nlm.nih.gov/42215426/). *Clin Genet*. [Case Report / Case Series]
Wampfler A (2026). [PMID: 41582885](https://pubmed.ncbi.nlm.nih.gov/41582885/). *Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)*. [Epidemiology / Natural History]
Achour TB (2026). [PMID: 41589212](https://pubmed.ncbi.nlm.nih.gov/41589212/). *Hepatology forum*. [Other]
Razak A (2026). [PMID: 42082735](https://pubmed.ncbi.nlm.nih.gov/42082735/). *Pediatr Res*. [Review / Meta-Analysis]
Somayyeh Heidargholizadeh G (2026). [PMID: 41454640](https://pubmed.ncbi.nlm.nih.gov/41454640/). *Pediatrics international : official journal of the Japan Pediatric Society*. [Review / Meta-Analysis]
Darouich S (2026). [PMID: 41527833](https://pubmed.ncbi.nlm.nih.gov/41527833/). *Pediatr Dev Pathol*. [Case Report / Case Series]
Molano Triviño A (2026). [PMID: 42008296](https://pubmed.ncbi.nlm.nih.gov/42008296/). *Kidney360*. [Case Report / Case Series]
Stopak W (2026). [PMID: 40717626](https://pubmed.ncbi.nlm.nih.gov/40717626/). *Journal of child neurology*. [Review / Meta-Analysis]