Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Synonyms: SHILCA syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Status
- active
A rare primary bone dysplasia characterized by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinization, white matter hyperintensity, hypomyelinating leukoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome | SHILCA syndrome |
| fr | Syndrome de dysplasie spondyloépiphysaire-surdité neurosensorielle-déficience intellectuelle-amaurose congénitale de Leber | Syndrome SHILCA |
| de | Spondyloepiphysäre Dysplasie-sensorineuraler Hörverlust-Intelligenzminderung-Lebersche kongenitale Amaurose-Syndrom | SHILCA-Syndrom |
| es | Síndrome de displasia espondiloepifisaria-hipoacusia neurosensorial-discapacidad intelectual-amaurosis congénita de Leber | Síndrome SHILCA |
| it | Sindrome da displasia spondiloepifisaria-sordità neurosensoriale-disabilità intellettiva-amaurosi congenita di Leber | Sindrome SHILCA |
| nl | Spondylo-epifysaire dysplasie - sensorineuraal gehoorverlies - intellectuele achterstand - congenitale amaurose van Leber-syndroom | SHILCA-syndroom |
| pt | Síndrome de displasia espondiloepifisária-perda auditiva neurossensorial-perturbação do desenvolvimento intelectual-amaurose congénita Leber | Síndrome SHILCA |
| pl | Zespół dysplazji kręgowo-nasadowej - głuchoty zmysłowo-nerwowej - niepełnosprawności intelektualnej - wrodzonej ślepoty Lebera | = en |
| cs | Syndrom zahrnující spondyloepifyzární dysplázii, senzorineurální nedoslýchavost, mentální retardaci a Leberovu vrozenou amaurózu | = en |
| uk | Синдром спондилоепіфізарної дисплазії-сенсоневральної приглухуватості-інтелектуальної недостатності-вродженого амаврозу Лебера | Синдром SHILCA |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619260 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0031007 | E | validated | |
| UMLS | C5543257 | 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 (8):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611207
- This record as JSON: /data/d/611207.json