Synonyms: ARCL2A
A rare genetic dermis elastic tissue disease characterized by redundant overfolded skin of variable severity ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation hypotonia mild to moderate developmental delay late closure of anterior fontanelle and craniofacial dysmorphism (including microcephaly hypertelorism downslanting palpebral fissures large prominent nasal root with funnel nose small low-set ears long philtrum drooping facial skin). Additional manifestations may include seizures intellectual disability congenital hip dislocation inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
Newly diagnosed with
Autosomal recessive cutis laxa type 2A?
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Advocacy Organizations
CDG CARE
Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
v-ATPase Alliance, Inc.
v-ATPase Alliance is a parent driven organization which aims to empower and unite families affected by v-ATPase genetic disorders, advance scientific research, and raise awareness to improve the lives of children impacted by this disease.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.