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 April 2024
Newly diagnosed with
Autosomal recessive cutis laxa type 2B?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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