is a rare inherited disorder causing loose skin and developmental delays.

is a rare inherited disorder causing loose, inelastic skin and developmental delays.

is a rare genetic disorder causing loose skin and internal organ problems.

is a rare autosomal recessive disorder with loose skin and organ complications.

is a rare inherited connective tissue disorder with loose, inelastic skin.

is a rare inherited disorder causing loose skin and developmental delays.

is a connective tissue disorder with loose skin and developmental delay.

is a rare inherited connective-tissue disorder causing loose skin and developmental delay.

is a rare autosomal recessive connective tissue disorder with loose skin.

is an inherited (autosomal recessive) disorder causing balance and coordination problems (ataxia).

is an inherited disorder from two carrier parents; symptoms vary widely.

is an autosomal recessive condition causing dot-like thickened skin (keratoderma) on palms/soles.

is an inherited (autosomal recessive) condition causing widespread thickened palms and soles.

is a rare inherited disorder causing localized thickened palms and soles.

is a genetic motor nerve disorder causing weakness in hands and feet.

is a rare inherited muscle disorder causing progressive hand and foot weakness.

is a rare inherited disorder causing progressive bone loss in hands/feet.

is a genetic kidney disorder causing acidic blood and kidney stones.

is a rare inherited movement disorder improving with low-dose levodopa.

is an inherited telomere disorder causing marrow failure, skin and mouth changes.

is an inherited telomere disorder causing skin changes and bone marrow failure.

is a disorder affecting telomeres, causing bone marrow failure and mucocutaneous changes.

is an autosomal recessive telomere disorder causing marrow failure and skin changes.

is a rare autosomal recessive telomere disorder causing skin, nail, and marrow problems.