Autosomal recessive cutis laxa type 2
Synonyms: ARCL2 · Cutis laxa with joint laxity and developmental delay
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cutis laxa type 2 | ARCL2 · Cutis laxa with joint laxity and developmental delay |
| fr | Cutis laxa autosomique récessive type 2 | ARCL2 · Syndrome de cutis laxa-hyperlaxité ligamentaire-retard de développement |
| de | Cutis laxa, autosomal-rezessive, Typ 2 | ARCL2 · Cutis laxa - Gelenkinstabilität - Entwicklungsverzögerung |
| es | Cutis laxa autosómica recesiva tipo 2 | ARCL2 · Cutis laxa con laxitud articular y retraso del desarrollo |
| it | Cutis laxa autosomica recessiva, tipo 2 | ARCL2 · Cutis laxa con lassità articolare e ritardo dello sviluppo |
| nl | Autosomaal recessieve cutis laxa type 2 | ARCL2 · Cutis laxa met gewrichtslaxiteit en ontwikkelingsachterstand |
| pt | Cutis laxa autossómica recessiva tipo 2 | |
| pl | Autosomalna recesywna skóra wiotka typu 2 | ARCL2 · Skóra wiotka z luźnością w stawach i opóźnieniem w rozwoju |
| cs | Autozomálně recesivní cutis laxa, typ 2 | ARCL2 · Cutis laxa se zvýšenou volností kloubů a opožděním vývoje |
| uk | Аутосомно-рецесивний синдром cutis laxa, тип 2 | ARCL2 · Cutis laxa з вялістю суглобів та затримкою розвитку |
| zh | 常染色体隐性遗传皮肤松弛症2型 | 皮肤松弛症伴发关节松弛和发育延迟 |
| tr | Otozomal resesif kutis laksa tip 2 | ARCL2 · Eklem gevşekliği ve gelişme geriliği ile seyreden kutis laksa |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019573 | E | validated | |
| UMLS | C0432337 | 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:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:289866Disorder of proline metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/90350
- This record as JSON: /data/d/90350.json