Diethylstilbestrol syndrome
Synonyms: DES syndrome · Diethylstilbestrol embryofetopathy · Distilbene embryofetopathy · DES embryofetopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diethylstilbestrol syndrome | DES syndrome · Diethylstilbestrol embryofetopathy · Distilbene embryofetopathy · DES embryofetopathy |
| fr | Syndrome diéthylstilbestrol | Embryofoetopathie au distilbène · Exposition anténatale au diéthylstilbestrol · Syndrome DES |
| de | Diethylstilbestrol-Syndrom | DES-Syndrom · Diethylstilbestrol (DES)-Embryopathie · Distilben-Embryopathie |
| es | Síndrome por dietilestilbestrol | Embriofetopatía por dietilestilbestrol (DES) · Embriofetopatía por distilben · Síndrome DES |
| it | Sindrome da dietilstilbestrolo | Embriofetopatia da DES · Embriofetopatia da dietilstilbestrolo · Embriofetopatia da distilbene · Sindrome da DES |
| nl | Diëthylstilbestrolsyndroom | DES-embryofoetopathie · DES-syndroom · Distilbeen-embryofoetopathie · Diëthylstilbestrol-embryofoetopathie |
| pt | Embriofetopatia por dietilstilbestrol | Embriofetopatia por distilbeno |
| pl | Zespół dietylstilbestrolowy | Embriofetopatia dietylstilbestrolowa · Embriofetopatia DES · Zespół DES |
| cs | Diethylstilbestrolový syndrom | DES embryopatie · DES syndrom · Diethylstilbestrolová embryopatie · Distilbenová embryopatie |
| uk | Синдром діетилстильбестролу | Ембріофетопатія DES · Синдром дисемінованого склерозу · Ембріофетопатія діетилстильбестролу · Дистильбенева ембріофетопатія |
| zh | 己烯雌酚综合征 | 己烯雌酚胎儿胚胎病 |
| tr | Dietilstilbestrol sendromu | DES sendromu · DES embriyofetopati · Distilben embriyofetopati · Dietilstilbestrol embriyofetopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LB44.6 | E | specific | validated |
| MONDO | 0016012 | E | validated | |
| UMLS | C0853695 | E | validated | |
| GARD | 1859 | E | validated | |
| MedDRA | 10012780 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:180065Non-syndromic uterovaginal malformation
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:399882Rare female infertility due to an implantation defect
rare infertility disorders - ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2016-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012243 | Abnormal reproductive system morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0003002 | Breast carcinoma | |
| HP:0000028 | Cryptorchidism | |
| HP:0000868 | Decreased fertility in females | |
| HP:0030424 | Epididymal cyst | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000054 | Micropenis | |
| HP:0100602 | Preeclampsia | |
| HP:0001622 | Premature birth | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0001518 | Small for gestational age | |
| HP:0008715 | Testicular dysgenesis | |
| HP:0100650 | Vaginal neoplasm | |
| Frequent (79-30%) | ||
| HP:0000047 | Hypospadias | |
| Occasional (29-5%) | ||
| HP:0002871 | Central apnea | |
| HP:0002861 | Melanoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 15906411[PMID]_19689815[PMID]_21991952[PMID]_22682699[PMID]_3717241[PMID]_20204493[PMID]_17390375[PMID]_3807995[PMID]_12918007[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1916
- This record as JSON: /data/d/1916.json