Primary tethered cord syndrome
Synonyms: Primary tethered spinal cord syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary tethered cord syndrome | Primary tethered spinal cord syndrome |
| fr | Syndrome de la moelle attachée primaire | Fibrolipome du filum · Filum court et épais · Filum lipomateux · Syndrome de traction du cône terminal, forme primaire |
| de | Tethered-Cord-Syndrom, primäres | Primäres Tethered-Spinal-Cord Syndrom |
| es | Síndrome de médula anclada primario | Síndrome primario de médula espinal anclada |
| it | Sindrome primitiva del midollo ancorato | Sindrome primitiva del midollo spinale ancorato |
| nl | Primaire gekluisterde conus-syndroom | Primair 'tethered cord'-syndroom · Primair gekluisterd ruggenmerg-syndroom |
| pt | Síndrome da medula ancorada, primário | Síndrome da medula espinhal ancorado, primário |
| pl | Pierwotny zespół zakotwiczenia rdzenia kręgowego | = en |
| cs | Primární tethered cord syndrom | Primární tethered spinal cord syndrom · Primární syndrom fixované míchy |
| uk | Первинний синдром привязаного канатика | Первинний синдром привязаного спинного мозку |
| zh | 原发性脊髓栓系综合征 | 原发性脊髓栓系综合征 |
| tr | Primer bağlı kord sendromu | Primer gergin omurilik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.8 | NTBT | attributed | validated |
| ICD-11 | LA07.0 | E | specific | validated |
| MONDO | 0017086 | E | validated | |
| UMLS | C4708602 | E | validated | |
| GARD | 4018 | 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:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268861
- This record as JSON: /data/d/268861.json