Autosomal recessive cutis laxa type 2B

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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 July 2024

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Autosomal recessive cutis laxa type 2B?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

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