Reunion Island Larsen-like syndrome

What is Reunion Island Larsen-like syndrome?

A rare, genetic, congenital disorder of glycosylation characterized by severe, pre- and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties, and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora, is observed on imaging.

Other condition names

  • Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.