Cutis laxa-Marfanoid syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutis laxa-Marfanoid syndrome | |
| fr | Syndrome cutis laxa-marfanoïde | |
| de | Cutis laxa-marfanoides Syndrom | |
| es | Síndrome marfanoide-cutis laxa | |
| it | Cutix laxa e sindrome marfanoide | |
| nl | Cutis laxa - marfanoïd-syndroom | |
| pt | Síndrome marfanóide - cutis laxa | |
| pl | Luźna skóra-zespół marfanoidalny | |
| cs | Syndrom zahrnující cutis laxa a marfanoidní habitus | |
| uk | Cutis laxa-Марфаноїдний синдром | |
| zh | 皮肤松弛-马凡样综合征 | |
| tr | Kutis laksa-Marfanoid sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614100 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0013574 | E | validated | |
| MeSH | C563639 | E | validated | |
| UMLS | C0432335 | 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 (2):
- ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1864606[PMID] |
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 1864606[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002097 | Emphysema | |
| HP:0001371 | Flexion contracture | |
| HP:0002827 | Hip dislocation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001582 | Redundant skin | |
| Frequent (79-30%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171719
- This record as JSON: /data/d/171719.json