Johanson-Blizzard syndrome synonyms

Johanson-Blizzard Syndrome Synonyms

Johanson-Blizzard Syndrome (JBS) is a rare genetic disorder that affects multiple parts of the body. It is characterized by various physical abnormalities and developmental delays. While there are no direct synonyms for JBS, it is sometimes referred to by alternative names or descriptions that highlight its key features.

One such alternative name for JBS is Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Insufficiency, and Developmental Delay Syndrome. This name emphasizes the main clinical manifestations of the syndrome, including underdeveloped nasal alae, hypothyroidism, pancreatic insufficiency, and developmental delays.

Another term used to describe JBS is Alar Nasal Hypoplasia, Hypothyroidism, Pancreatic Insufficiency, and Developmental Delay Syndrome. This name focuses on the nasal alar hypoplasia, which is a characteristic facial feature of individuals with JBS.

Additionally, JBS is sometimes referred to as Pancreatic Insufficiency with Nasal Alar Hypoplasia and Hypothyroidism. This name highlights the pancreatic insufficiency, nasal alar hypoplasia, and hypothyroidism as the primary features of the syndrome.

It is important to note that while these alternative names provide additional descriptions of JBS, they are not widely used and may not be recognized by all healthcare professionals. The official medical term for the condition remains Johanson-Blizzard Syndrome.