Spina bifida-hypospadias syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spina bifida-hypospadias syndrome | |
| fr | Syndrome de spina bifida-hypospadias | |
| de | Spina bifida-Hypospadie-Syndrom | |
| es | Síndrome de espina bífida-hipospadias | |
| it | Spina bifida - ipospadia | |
| nl | Spina bifida - hypospadie-syndroom | |
| pt | Síndrome de espinha bífida-hipospadias | |
| pl | Rozszczep kręgosłupa - spodziectwo | |
| cs | Syndrom zahrnující spina bifida a hypospadii | |
| uk | Синдром Spina bifida-гіпоспадія | |
| zh | 脊柱裂-尿道下裂综合征 | |
| tr | Spina bifida-hipospadias sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q05.9 | NTBT | attributed | validated |
| MONDO | 0017857 | E | validated | |
| UMLS | C4706660 | E | validated | |
| GARD | 4940 | 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:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6.1 / 100 000 | Spain | Value and class | Validated | 7977461[PMID]_37868647[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 6.1 / 100 000 | Spain | Value and class | Validated | 7977461[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000047 | Hypospadias | |
| HP:0002414 | Spina bifida | |
| HP:0010301 | Spinal dysraphism | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3176
- This record as JSON: /data/d/3176.json