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Autosomal recessive cutis laxa type 2B

MONDO:0013051

Autosomal recessive cutis laxa type 2B is 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.

Also known as: ARCL2, progeroid type, ARCL2B, PYCR1 autosomal recessive cutis laxa type 2, autosomal recessive cutis laxa type 2 caused by mutation in PYCR1, autosomal recessive cutis laxa type 2, progeroid type, autosomal recessive cutis laxa type 2B, autosomal recessive cutis laxa type IIB, cutis laxa with progeroid features

63 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Inborn errors of metabolism (42) Osteogenesis imperfecta (33) Cutis laxa (28) Human disease (14) Osteochondrodysplasia (12)
Trials to join now! 32 Not yet recruiting 9 Not yet finished but already full! 7 Completed 14 Terminated 1
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