Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds. It is characterised...

(1870-1945), a Croatian general Laxa, lax, loose or slack in Latin, may refer to: Laxå Municipality, a place in Sweden Cutis laxa, a group of rare connective...

syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological...

Several disorders share some characteristics with EDS. For example, in cutis laxa, the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled...

vascularitis Cutis Gyrata syndrome of Beare and Stevenson Cutis gyratum acanthosis nigricans craniosynostosis Cutis laxa Cutis laxa, recessive Cutis laxa corneal...

syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation, and facial...

connective tissue disorders, including classical Ehlers-Danlos syndrome and cutis laxa. Dermatochalasis can be a major contributing factor for headaches due...

wrinkly skin syndrome (WSS) or autosomal recessive cutis laxa type II (ARCL II) (another cutis laxa disorder). Some consider WSS to be a milder variant...

anomalies Crouzon syndrome Crouzon syndrome-acanthosis nigricans syndrome Cutis laxa, autosomal recessive, types 1B and 2E Developmental and epileptic encephalopathy...

with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis laxa. Other associated defects in elastin include Marfan syndrome, emphysema...

it has received orphan drug designation from the FDA.[citation needed] Cutis laxa List of cutaneous conditions Inborn errors of metal metabolism Online...

syndrome 5 and 6 Cranioectodermal dysplasia 2 and 3 Craniofacial microsomia Cutis laxa, autosomal recessive, type 1B D-2-hydroxyglutaric aciduria 1 Desmosterolosis...

deaminated to become incorporated into the elastin strand. Disorders such as cutis laxa and Williams syndrome are associated with deficient or absent elastin...

Congenital myopathy 4B, autosomal recessive Creatine transporter deficiency Cutis laxa, X-linked Ehlers-Danlos syndrome, Beasley-Cohen type Granulocytopenia...

autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes. This condition is inherited in an autosomal recessive pattern...

impair and alter the structural appearance of elastic and collagen fibers. Cutis laxa and Williams syndrome have elastic matrix defects that have been directly...

example, studies in Xenopus confirmed and elucidated the role of PYCR1 in cutis laxa with progeroid features. Transgenic Xenopus for studying transcriptional...

a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa". Human Molecular Genetics. 11 (18): 2113–8. doi:10.1093/hmg/11.18.2113...

dermatochalasis, open-angle glaucoma, bilateral progressive facial paralysis, cutis laxa, skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin...

Van Maldergem L, Mundlos S (January 2008). "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nature...

affecting persons with HIV infection. Keppen–Lubinsky syndrome Lipoedema Cutis laxa Phan J, Reue K (January 2005). "Lipin, a lipodystrophy and obesity gene"...

result in fractures. Occipital horn syndrome (sometimes called X-linked cutis laxa or Ehlers-Danlos type 9) is a mild form of Menkes syndrome that begins...

(anetoderma maculosa, anetoderma maculosa cutis, atrophia maculosa cutis, macular atrophy) Blepharochalasis Cutis laxa (chalazoderma, dermatochalasia, dermatolysis...

amyloidosis due to accumulation of gelsolin. Associated conditions may include cutis laxa and ataxia. type III is also described which has an onset at age 70 to...

the neuroendocrine system, giving rise to bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, intellectual disability,...

Escande-Beillard, N.; Dimopoulou, A.; et al. (2009-08-02). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–1021. doi:10.1038/ng...

VI, et al. (March 2007). "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic...

characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, intellectual disability...

Thomas R, Trompeter R, Duffy P, Price R, Pope FM (Feb 1997). "Congenital cutis laxa and lysyl oxidase deficiency". Clinical Genetics. 51 (2): 109–14. doi:10...

component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. GRCh38: Ensembl release 89: ENSG00000185344...