Wiedemann-Steiner syndrome

Wiedemann-Steiner syndrome is a rare genetic disorder whose main features are developmental delay, unusual facial features, short stature and reduced muscle tone, known as hypotonia. The syndrome carries the name of Hans-Rudolf Wiedemann, who described the first case in 1989 together with colleagues. That first report concerned a boy who showed growth deficiency before and after birth, delayed psychomotor development, a round and flat face, a short nose, widely spaced eyes, a long philtrum, short palpebral fissures, low-set ears and a high-arched palate. He also had an alternating convergent squint, widened renal calyces and short, thick limbs. The genetic basis of the syndrome was identified in 2012 by Dr. Wendy D. Jones, and later decades brought further findings and descriptions of the disorder.