Spastic paraparesis-deafness syndrome
historical
Synonyms: Spastic paraparesis-hearing loss syndrome · Wells-Jankovic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- historical
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraparesis-deafness syndrome | Spastic paraparesis-hearing loss syndrome · Wells-Jankovic syndrome |
| fr | Syndrome de paraparésie spastique-surdité | Syndrome de Wells-Jankovic |
| de | Spastische Paraparese-Schwerhörigkeit-Syndrom | Wells-Jankovic-Syndrom |
| es | Síndrome de paraparesia espástica-sordera | Síndrome de Wells-Jankovic · Síndrome de paraparesia espástica-hipoacusia |
| it | Sindrome da paraparesi spastica-sordità | Sindrome di Wells-Jankovic |
| nl | Spastische paraparese - doofheid-syndroom | Syndroom van Wells-Jankovic |
| pt | Síndrome de paraparésia espástica-surdez | Síndrome Wells-Jankovic · Síndrome de paraparésia espástica-perda auditiva |
| pl | Parapareza spastyczna - głuchota | Zespół Wellsa i Jankovica |
| cs | Syndrom zahrnující spastickou paraparézu a hluchotu | Wellsové-Jankovicův syndrom · Wells-Jankovicův syndrom |
| uk | Синдром спастичного парапарезу-глухоти | Синдром спастичного парапарезу-туговухості · Синдром Веллса-Янковича |
| zh | 痉挛性轻瘫-耳聋综合征 | 痉挛性截瘫-听力丧失综合征 |
| tr | Spastik paraparezi-sağırlık sendromu | Wells-Jankovic sendromu · Spastik paraparezi-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312910 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010732 | E | validated | |
| MeSH | C536692 | E | validated | |
| UMLS | C2931291 | E | validated | |
| GARD | 5555 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 | 6 cases | Worldwide | Case(s) | Validated | 3741213[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3741213[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002313 | Spastic paraparesis | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000518 | Cataract | |
| HP:0000135 | Hypogonadism | |
| HP:0004322 | Short stature | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0000639 | Nystagmus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2815
- This record as JSON: /data/d/2815.json