Blindness-scoliosis-arachnodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare syndromic ectopia lentis characterized by progressive visual loss leading to blindness, spinal deformities such as scoliosis or kyphoscoliosis, and arachnodactyly (abnormally long, slender fingers and toes). Visual impairment often begins in childhood due to lens luxation and retinal complications. Male patients typically present with the full phenotype, whereas females may exhibit only blindness. No other associated skeletal, skin, joint, or visceral abnormalities have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blindness-scoliosis-arachnodactyly syndrome | |
| fr | Syndrome de cécité-scoliose-arachnodactylie | |
| de | Blindheit-Skoliose-Arachnodaktylie-Syndrom | |
| es | Síndrome de ceguera-escoliosis-aracnodactilia | |
| it | Cecità - scoliosi - aracnodattilia | |
| nl | Blindheid - scoliose - arachnodactylie-syndroom | |
| pt | Síndrome de cegueira-escoliose-aracnodactilia | |
| pl | Ślepota - skolioza - arachnodaktylia | |
| cs | Syndrom zahrnující slepotu, skoliózu a arachnodaktylii | |
| uk | Синдром сліпоти-сколіозу-арахнодактилії | |
| zh | 失明-脊柱侧凸-蜘蛛脚样指（趾）综合征 | |
| tr | Körlük-skolyoz-araknodaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612445 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD28.Y | NTBT | index | validated |
| MONDO | 0012907 | E | validated | |
| UMLS | C4303548 | 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:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic 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 | 4 cases | Worldwide | Case(s) | Validated | 18990988[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18990988[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
11 annotations · validated 2017-08-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000618 | Blindness | |
| HP:0002650 | Scoliosis | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000518 | Cataract | |
| HP:0000565 | Esotropia | |
| HP:0001132 | Lens subluxation | |
| HP:0012376 | Microphakia | |
| HP:0000541 | Retinal detachment | |
| HP:0000486 | Strabismus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 18990988[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171844
- This record as JSON: /data/d/171844.json