46,XX difference of sex development-skeletal anomalies syndrome
historical
Synonyms: 46,XX disorder of sex development-skeletal anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- historical
A rare difference of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XX difference of sex development-skeletal anomalies syndrome | 46,XX disorder of sex development-skeletal anomalies syndrome |
| fr | Syndrome de différence du développement sexuel 46,XX-différences squelettiques | Syndrome d'anomalie du développement sexuel 46,XX-anomalies squelettiques |
| de | 46,XX-Störung der Geschlechtsentwicklung-Skelettanomalien-Syndrom | 46,XX-DSD-Skelettanomalien-Syndrom |
| es | Síndrome de desarrollo sexual diferente 46,XX-anomalías esqueléticas | Síndrome DSD 46,XX-anomalías esqueléticas · Síndrome de trastorno del desarrollo sexual 46,XX-anomalías esqueléticas |
| it | Malattia dello sviluppo sessuale 46,XX-anomalie scheletriche | Pseudoermafroditismo femminile - anomalie scheletriche |
| nl | 46,XX-geslachtsontwikkelingsstoornis - skeletanomalieën-syndroom | |
| pt | Síndrome de doença do desenvolvimento sexual 46,XX-anomalias esqueléticas | Pseudo-hermafroditismo feminino-anomalias esqueléticas |
| pl | Zaburzenie rozwoju płci z kariotypem 46,XX - anomalie szkieletowe | Pseudohermafrodytyzm żeński - wady szkieletu |
| cs | Syndrom zahrnující 46,XX poruchu pohlavního vývoje a skeletální anomálie | Syndrom zahrnující ženský pseudohermafroditismus a skeletální anomálie |
| uk | Синдром 46,XX порушення статевої диференціації-скелетних аномалій | Синдром 46,XX порушення статевого розвитку - скелетних аномалій |
| zh | 46XX性发育异常-骨骼异常综合征 | |
| tr | 46, XX cinsel gelişim bozukluğu-iskelet anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264270 | E | validated | |
| ICD-10 | Q56.2 | NTBT | attributed | validated |
| MONDO | 0009915 | E | validated | |
| UMLS | C4518077 | 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 (2):
- ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 5042791[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5042791[PMID] |
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
12 annotations · validated 2017-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000061 | Ambiguous genitalia, female | |
| HP:0003871 | Deformed humerus | |
| HP:0003083 | Dislocated radial head | |
| HP:0000063 | Fused labia minora | |
| HP:0010650 | Hypoplasia of the premaxilla | |
| HP:0040253 | Increased size of the clitoris | |
| HP:0007628 | Mandibular condyle hypoplasia | |
| HP:0000347 | Micrognathia | |
| HP:0000786 | Primary amenorrhea | |
| Excluded (0%) | ||
| HP:0000137 | Abnormality of the ovary | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0000142 | Abnormality of the vagina | |
Annotation source: 5042791[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2975
- This record as JSON: /data/d/2975.json