Dermatology · Dermatology / Heritable connective tissue disorders
Cutis laxa syndrome
also: Generalized elastolysis
Loose, sagging, inelastic skin from elastic fiber defects.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Heritable connective tissue disorders
- Sex & age distribution
- Male: affected; Female: affected; Children: yes, congenital forms
- Gene(s) involved
- ALDH18A1, ATP6V0A2, ATP6V1E1, ELN, FBLN4, FBLN5, LTBP4, PYCR1
- Alternative names & eponyms
- Generalized elastolysis
Etiology & mechanism
Defective elastic fiber assembly or extracellular matrix.
Gene(s) involved (8)
Symptoms & signs (7)
In plain terms, someone with Cutis laxa syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Aicardi syndrome
developmental delay
1 shared
Arterial tortuosity syndrome
hernias
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Cardio-facio-cutaneous syndrome
developmental delay
1 shared
Chanarin–Dorfman syndrome
developmental delay
1 shared
Cobalamin C syndrome
developmental delay
1 shared
Cockayne syndrome
developmental delay
1 shared
Costello syndrome
loose skin
1 shared
Dandy–Walker malformation
developmental delay
Shares genes with
Loading…
Loading…