Penoscrotal transposition
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Penoscrotal transposition | |
| fr | Transposition pénoscrotale | |
| de | Penoskrotale Transposition | |
| es | Transposición penoescrotal | |
| it | Trasposizione penoscrotale | |
| nl | Penoscrotale transpositie | |
| pt | Transposição peno-escrotal | |
| pl | Transpozycja prąciowo-mosznowa | |
| cs | Penoskrotální transpozice | |
| uk | Піноскротальна транспозиція | |
| zh | 阴茎阴囊转位 | |
| tr | Penoskrotal transpozisyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q55.8 | NTBT | attributed | validated |
| ICD-11 | LB5Y | NTBT | index | validated |
| MONDO | 0017285 | E | validated | |
| MeSH | C536650 | E | validated | |
| UMLS | C1868854 | E | validated | |
| GARD | 4273 | E | validated | |
| MedDRA | 10067287 | 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 (1):
- ORPHA:182121Non-syndromic urogenital tract malformation of male
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related 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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000795 | Abnormality of the urethra | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000047 | Hypospadias | |
| HP:0000347 | Micrognathia | |
| HP:0000768 | Pectus carinatum | |
| HP:0100600 | Penoscrotal transposition | |
| HP:0000104 | Renal agenesis | |
| HP:0000110 | Renal dysplasia | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0010751 | Chin dimple | |
| HP:0000286 | Epicanthus | |
| HP:0000269 | Prominent occiput | |
| HP:0000049 | Shawl scrotum | |
| Occasional (29-5%) | ||
| HP:0006443 | Patellar aplasia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2842
- This record as JSON: /data/d/2842.json