Autosomal recessive cutis laxa, type 2B (Q99447): Difference between revisions

Autosomal recessive cutis laxa, type 2B (ARCL-2B) is characterised by wrinkled inelastic skin, especially on the dorsa of the extremities and on the abdomen, osteoporosis, hip dislocation, intrauterine and postnatal growth retardation and developmental delay. Distinctive features include triangular dysmorphic facies with progeroid appearance, bulbous nose, prognathism, hypotelorism, epicanthal folds, blue sclerae, large ears and microcephaly. Some of these features overlap with those of geroderma osteodysplasticum, ARCL-2A, wrinkled skin syndrome and ARCL-3 (De Barsy syndrome). ARCL-IIB results from mutations in the PYCR1 gene, which encodes a mitochondrial enzyme involved in proline metabolism.