Autosomal recessive cutis laxa type 2A

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Autosomal recessive cutis laxa type 2A

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: // Data version September 2023.

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Autosomal recessive cutis laxa type 2A?

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Advocacy Organizations

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.


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.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.