Cutis laxa

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Cutis laxa

ORPHA:209Clinical group

What it is

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.

Key facts

Prevalence
1-9 / 1 000 000 (at birth, Europe)
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

ALDH18A1ATP7AEFEMP2ELNFBLN5GORABLTBP1LTBP4PYCR1RIN2SLC2A10

Orphanet records these genes on 8 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 6227MEDDRA 10011692MESH D003483MONDO 0016175MONDO 16175UMLS C0010495

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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