Autosomal recessive cutis laxa type 2B
Synonyms: ARCL2, progeroid type | ARCL2B | Autosomal recessive cutis laxa type 2, progeroid type
A rare hereditary developmental defect with connective tissue involvement characterized by cutis laxa of variable severity in utero growth restriction congenital hip dislocation and joint hyperlaxity wrinkling of the skin in particular the dorsum of hands and feet and progeroid facial features. Hypotonia developmental delay and intellectual disability are common. In addition cataracts corneal clouding wormian bones lipodystrophy and osteopenia have been reported.
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 2023.
Newly diagnosed with
Autosomal recessive cutis laxa type 2B?
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Advocacy Organizations
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.
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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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