46,XX difference of sex development-anorectal anomalies syndrome
Synonyms: 46,XX disorder of sex development-anorectal anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XX difference of sex development-anorectal anomalies syndrome | 46,XX disorder of sex development-anorectal anomalies syndrome |
| fr | Syndrome de différence du développement sexuel 46,XX-anomalies anorectales | Syndrome d'anomalie du développement sexuel 46,XX-anomalies anorectales |
| de | 46,XX Störung der Geschlechtsentwicklung-anorektale Anomalien-Syndrom | |
| es | Síndrome de desarrollo sexual diferente 46,XX-anomalías anorrectales | Síndrome DSD 46,XX-anomalías anorrectales · Síndrome de trastorno del desarrollo sexual 46,XX-anomalías anorrectales |
| it | Disturbi dello sviluppo sessuale 46,XX - anomalie anorettali | Pseudoermafroditismo femminile - anomalie anorettali |
| nl | 46,XX-geslachtsontwikkelingsstoornis - anorectale anomalieën-syndroom | |
| pt | Síndrome de diferença do desenvolvimento sexual 46,XX-anomalias ano-rectais | |
| pl | Zaburzenie rozwoju płci z kariotypem 46,XX - anomalie odbytu i odbytnicy | Pseudohermafrodytyzm żeński - wady odbytnicy i odbytu |
| cs | Syndrom zahrnující 46,XX poruchu pohlavního vývoje a anorektální anomálie | Syndrom zahrnující ženský pseudohermafroditismus a anorektální anomálie |
| uk | Синдром 46,XX порушення статевої диференціації- аноректальних аномалій | Синдром 46,XX порушення статевого розвитку - аноректальних аномалій |
| zh | 46XX性发育异常-肛门直肠异常综合征 | |
| tr | 46, XX cinsel gelişim bozukluğu-anorektal anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q56.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0017573 | E | validated | |
| UMLS | C4518078 | 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:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:180148Syndromic uterovaginal malformation
rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000812 | Abnormal internal genitalia | |
| HP:0002023 | Anal atresia | |
| HP:0010458 | Female pseudohermaphroditism | |
| Frequent (79-30%) | ||
| HP:0000795 | Abnormality of the urethra | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001562 | Oligohydramnios | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0002566 | Intestinal malrotation | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0100779 | Urogenital sinus anomaly | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2973
- This record as JSON: /data/d/2973.json