Spigelian hernia-cryptorchidism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spigelian hernia-cryptorchidism syndrome | |
| fr | Syndrome de cryptorchidie-hernie de Spiegel | |
| de | Spieghel-Hernie-Kryptorchismus-Syndrom | |
| es | Síndrome de hernia spiegeliana-criptorquidia | |
| it | Sindrome da ernia di Spigelio e criptorchidismo | |
| nl | Hernia spiegeli - cryptorchidie-syndroom | Laterale ventrale hernia - cryptorchidie-syndroom |
| pt | Síndrome de hérnia de Spigel-criptorquidia | |
| pl | Zespół przepuklina Spiegiela-wnętrostwo | |
| cs | Syndrom zahrnující hernia Spiegeli a kryptorchismus | Syndrom zahrnující Spiegelovu kýlu a kryptorchismus |
| uk | Синдром спігелієвої кили-крипторхізму | |
| zh | 半月线疝-隐睾综合征 | |
| tr | Spigelian herni-kriptorşidi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K43.6 | NTBT | attributed | validated |
| MONDO | 0017798 | E | validated | |
| UMLS | C4751074 | 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:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical 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 | 15 cases | Worldwide | Case(s) | Validated | 20680633[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314432
- This record as JSON: /data/d/314432.json