Autosomal recessive cutis laxa type 2A
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Autosomal recessive cutis laxa type 2A?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Genetic Epilepsy Team Australia
Collaboration of research and care
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
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 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.
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Moonshots for Unicorns
Curing single-gene disorders
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.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
For a list of clinical trials in this disease area, please click here.