Cutis laxa
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Status
- active
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutis laxa | |
| fr | Cutis laxa | |
| de | Cutis laxa | |
| es | Cutis laxa | |
| it | Cutis laxa | |
| nl | Cutis laxa | |
| pt | Cutis laxa | |
| pl | Skóra wiotka | |
| cs | Cutis laxa | |
| uk | Cutis laxa | |
| zh | 皮肤松弛症 | |
| tr | Kutis laksa |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | EE41.0 | E | specific | validated |
| MONDO | 0016175 | E | validated | |
| MONDO | 16175 | E | validated | |
| MeSH | D003483 | E | validated | |
| UMLS | C0010495 | E | validated | |
| GARD | 6227 | E | validated | |
| MedDRA | 10011692 | 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 (5):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
Children (12):
- ORPHA:3342Arterial tortuosity syndrome
- ORPHA:90348Autosomal dominant cutis laxa
- ORPHA:90349Autosomal recessive cutis laxa type 1
- ORPHA:90350Autosomal recessive cutis laxa type 2
- ORPHA:363705Craniofaciofrontodigital syndrome
- ORPHA:221145Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- ORPHA:2962De Barsy syndrome
- ORPHA:2078Geroderma osteodysplastica
- ORPHA:314718Lethal arteriopathy syndrome due to fibulin-4 deficiency
- ORPHA:198Occipital horn syndrome
- ORPHA:217335RIN2 syndrome
- ORPHA:3134SCARF syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/209
- This record as JSON: /data/d/209.json