Sorsby syndrome
historical
Synonyms: Coloboma of macula-brachydactyly type B syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sorsby syndrome | Coloboma of macula-brachydactyly type B syndrome |
| fr | Syndrome de Sorsby | Syndrome de colobome maculaire-brachydactylie type B |
| de | Sorsby-Syndrom | Makulakolobom-Brachydaktylie Typ B-Syndrom |
| es | Síndrome de Sorsby | Síndrome de coloboma macular-braquidactilia tipo B |
| it | Sindrome di Sorsby | Sindrome coloboma maculare-brachidattilia tipo B |
| nl | Syndroom van Sorsby | Maculacoloboom - brachydactylie type B-syndroom |
| pt | Síndrome de coloboma macular-braquidactilia tipo B | Síndrome Sorsby |
| pl | Szczelina plamki - brachydaktylia typu B | Zespół Sorsby |
| cs | Syndrom zahrnující kolobom makuly a brachydaktylii typu B | Sorsbyho syndrom |
| uk | Синдром колобоми макули-брахідактилії типу В | Синдром Сорсбі |
| zh | 黄斑缺损-B型短指综合征 | Sorsby综合征 |
| tr | Makula kolobomu-brakidaktili tip B sendromu | Sorsby sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120400 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007353 | E | validated | |
| MeSH | C535969 | E | validated | |
| UMLS | C1852752 | E | validated | |
| GARD | 1437 | 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 (3):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:716422Rare disorder with non-progressive predominantly macular disorder as a major feature
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 | 10 cases | Worldwide | Case(s) | Validated | 3385739[PMID]_12919145[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3385739[PMID]_12919145[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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000567 | Chorioretinal coloboma | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0005831 | Type B brachydactyly | |
| Frequent (79-30%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0011304 | Broad thumb | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0100798 | Fingernail dysplasia | |
| Occasional (29-5%) | ||
| HP:0000104 | Renal agenesis | |
| HP:0004322 | Short stature | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1471
- This record as JSON: /data/d/1471.json