Marfanoid syndrome, De Silva type
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adult, Childhood
- Status
- historical
A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marfanoid syndrome, De Silva type | |
| fr | Syndrome marfanoïde type de Silva | |
| de | Marfanoides-Syndrom vom Typ de Silva | |
| es | Síndrome marfanoide tipo De Silva | |
| it | Sindrome marfanoide, tipo De Silva | |
| nl | Marfanoïd syndroom, De Silva-type | |
| pt | Síndrome hábito marfanóide, tipo De Silva | |
| pl | Zespół marfanoidalny typu De Silva | |
| cs | Marfanoidní syndrom, De Silvaův typ | |
| uk | Марфаноїдний синдром, тип Де Сільва | |
| zh | 类马方综合征De Silva型 | |
| tr | Marfanoid sendromu, De Silva tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223330 | E | validated | |
| ICD-10 | Q87.4 | NTBT | attributed | validated |
| MONDO | 0009120 | E | validated | |
| UMLS | C4517371 | E | validated | |
| GARD | 3401 | 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:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related 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 | 6 cases | Worldwide | Case(s) | Validated | 13880014[PMID]_8976669[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_13880014[PMID]_8976669[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2464
- This record as JSON: /data/d/2464.json