/autosomal recessive cutis laxa type 2B

autosomal recessive cutis laxa type 2B

Rare Disease

MONDO:0013051

Also Known As

ARCL2, progeroid typeARCL2BPYCR1 autosomal recessive cutis laxa type 2autosomal recessive cutis laxa type 2 caused by mutation in PYCR1autosomal recessive cutis laxa type 2, progeroid typeautosomal recessive cutis laxa type 2Bautosomal recessive cutis laxa type IIBcutis laxa with progeroid featurescutis laxa, autosomal recessive type 2Bcutis laxa, autosomal recessive, type 2Bcutis laxa, autosomal recessive, type IIB

Definition

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.