Catalog

Johanson-Blizzard syndrome

No MMS code

Link to WHO Definition

Johanson-Blizzard syndrome – http://id.who.int/icd/entity/1427330812

Johanson-Blizzard syndrome encompasses a spectrum of clinical features but the hallmarks of the syndrome are hypoplastic alae nasi, dental anomalies, short stature, microcephaly, mental retardation, hypothyroidism, and deafness.