
Wrinkly skin syndrome - Wikipedia
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [1]
Wrinkly skin syndrome | About the Disease | GARD - Genetic and …
Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Other associated signs and symptoms vary widely.
wrinkly skin syndrome - National Organization for Rare Disorders
wrinkly skin syndrome GARD Disease Summary The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
Wrinkly Skin Syndrome: Symptoms, Causes And Treatment
Wrinkly skin syndrome, also known as restrictive dermopathy, is a rare genetic disorder that causes severe skin wrinkling and tightness. This condition is primarily caused by mutations in the LMNA gene, which plays a crucial role in maintaining the structural integrity of the skin.
Wrinkly skin syndrome | Genetic and Rare Diseases Information …
Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Other associated signs and symptoms vary widely.
Wrinkly skin syndrome - NIH Genetic Testing Registry (GTR) - NCBI
Clinical resource with information about Wrinkly skin syndrome and its clinical features, ATP6V0A2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, …
Orphanet: Wrinkly skin syndrome
Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth ...
Wrinkly skin syndrome (Concept Id: C0406587) - National Center …
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors.
Entry - #278250 - WRINKLY SKIN SYNDROME; WSS - OMIM
Oct 8, 2009 · Wrinkly skin syndrome (WSS) evolves during early childhood and includes generalized and excessive skin wrinkling, dental problems, herniae, foot deformities, hip dislocations, growth retardation, and a large anterior fontanel.
Wrinkly skin syndrome: phenotype and additional manifestations
The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardati …