Spinocerebellar degeneration-corneal dystrophy syndrome
historical
Synonyms: Der Kaloustian-Jarudi-Khoury syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar degeneration-corneal dystrophy syndrome | Der Kaloustian-Jarudi-Khoury syndrome |
| fr | Syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne | Syndrome de Der Kaloustian-Jarudi-Khoury |
| de | Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom | Der Kaloustian-Jarudi-Khoury-Syndrom |
| es | Síndrome de degeneración espinocerebelosa-distrofia corneal | Síndrome de Der Kaloustian-Jarudi-Khoury |
| it | Sindrome da degenerazione spinocerebellare e distrofia corneale | Sindrome cornea-cervelletto · Sindrome di Der Kaloustian-Jarudi-Khoury |
| nl | Spinocerebellaire degeneratie - corneadystrofie-syndroom | Syndroom van Der Kaloustian-Jarudi-Khoury |
| pt | Síndrome de degenerescência espinocerebelosa-distrofia da córnea | Síndrome Der Kaloustian-Jarudi-Khoury |
| pl | Zespół rogówka - móżdżek | Degeneracja móżdżkowo-rdzeniowa - dystrofia rogówki · Zespół Der Kaloustiana, Jarudi i Khoury'ego |
| cs | Korneální-cerebelární syndrom | Syndrom zahrnující spinocerebelární degeneraci a korneální dystrofii · Der Kaloustianův-Jarudiho-Khouryho syndrom · Der Kaloustian-Jarudi-Khouryho syndrom |
| uk | Синдром спіноцеребеллярної дегенерації-рогівкової дистрофії | Синдром Дер Калоустіана-Яруді-Хурі |
| zh | 脊髓小脑退行性变-角膜营养不良综合征 | Der Kaloustian-Jarudi-Khoury综合征 |
| tr | Spinoserebellar dejenerasyon-korneal distrofi sendromu | Der Kaloustian-Jarudi-Khoury sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271310 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0010063 | E | validated | |
| MONDO | 10063 | E | validated | |
| MeSH | C535472 | E | validated | |
| UMLS | C1849087 | E | validated | |
| GARD | 1525 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
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 | 2 cases | Worldwide | Case(s) | Validated | 3872072[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3872072[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
9 annotations · validated 2018-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001131 | Corneal dystrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0007006 | Dorsal column degeneration | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002503 | Spinocerebellar tract degeneration | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0000505 | Visual impairment | |
Annotation source: 3872072[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3177
- This record as JSON: /data/d/3177.json