Autosomal recessive cutis laxa type 2B

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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: // Data version September 2023.

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Autosomal recessive cutis laxa type 2B?

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Advocacy Organizations

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

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