diethylstilbestrol syndrome
Findings
No curated finding names diethylstilbestrol syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
Definition from the Mondo Disease Ontology (MONDO:0016012), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal reproductive system morphologyHPOHP:0012243
- Very frequent (80% to 99% of cases)
- Abnormal testis morphologyHPOHP:0000035
- Very frequent (80% to 99% of cases)
- Abnormality of the uterusHPOHP:0000130
- Very frequent (80% to 99% of cases)
- Breast carcinomaHPOHP:0003002
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Decreased fertility in femalesHPOHP:0000868
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Small for gestational ageHPOHP:0001518
- Very frequent (80% to 99% of cases)
- Vaginal neoplasmHPOHP:0100650
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Central apneaHPOHP:0002871
- Occasional (5% to 29% of cases)
- MelanomaHPOHP:0002861
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: diethylstilbestrol syndrome
- Also called
- DES embryofetopathyDES syndromediethylstilbestrol embryofetopathyDistilbene embryofetopathy