Autosomal Recessive Cutis Laxa Type 2 Caused by PYCR1 Mutation
Autosomal recessive cutis laxa type 2 (ARCL2) due to PYCR1 is a rare inherited connective tissue condition. The skin is loose, wrinkled, and hangs with poor...
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Autosomal recessive cutis laxa type 2 (ARCL2) due to PYCR1 is a rare inherited connective tissue condition. The skin is loose, wrinkled, and hangs with poor...
Autosomal recessive cutis laxa type 2B (ARCL2B) is a rare, inherited connective-tissue condition where a child is born with loose, wrinkled skin (cutis laxa) and features...
Cutis laxa with osteodystrophy is a rare group of inherited connective-tissue conditions. The skin looks loose, soft, and wrinkled because the elastic fibers are weak. “Osteodystrophy”...
Cutis laxa with joint laxity and developmental delay is a rare group of connective-tissue disorders where the skin loses its normal elastic recoil. The skin hangs in...
Cutis laxa with growth and developmental delay is a rare condition where the skin and some internal tissues become unusually loose and stretchy because the elastic fibers...
Cutis laxa with congenital disorder of glycosylation (CDG) is a rare inherited condition where a baby is born with loose, saggy skin (cutis laxa) and multisystem...
Cutis laxa with bone dystrophy is a rare connective-tissue disorder in which the skin is loose, saggy, and less elastic because elastic fibers and related matrix proteins are...
Autosomal recessive cutis laxa type 2A (ARCL2A) is a rare inherited condition where the skin is loose, hangs in folds, and does not spring back normally....
Autosomal recessive cutis laxa, pulmonary emphysema type 1 (ARCL1) is a rare inherited connective-tissue disorder. Babies or young children have very loose, saggy skin that does...
Autosomal recessive cutis laxa (ARCL) is a rare genetic disorder where the body’s elastic fibers—tiny stretchy cables that keep skin, lungs, blood vessels, and other organs...
Autosomal recessive cutis laxa type 1 (ARCL1) is a rare, inherited connective-tissue disorder. Babies or young children develop very loose, sagging, and inelastic skin (called “cutis...
ALDH18A1-related complex spastic paraplegia is a rare inherited nerve disease. It mainly makes the legs stiff and weak over time (this is called “spastic paraplegia”). “Complex”...