autosomal recessive cutis laxa type 2B
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.
MONDO:0019573
autosomal recessive cutis laxa type 2
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
ARCL2, progeroid type
exact
ARCL2B
exact
PYCR1 autosomal recessive cutis laxa type 2
exact
autosomal recessive cutis laxa type 2 caused by mutation in PYCR1
exact
autosomal recessive cutis laxa type 2, progeroid type
exact
autosomal recessive cutis laxa type 2B
exact
cutis laxa, autosomal recessive type 2B
related
cutis laxa, autosomal recessive, type IIB
related
SPAPYUG7.05