Johanson Blizzard syndrome [Supplementary Concept]

A hereditary autosomal recessive disorder characterized by poor growth, intellectual disability, and variable dysmorphic features, including nasal alae abnormalities, abnormal hair patterns or scalp defects, ANODNOTIA. Affected individuals may also have hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency. Mutations in the UBR1 gene have been identified. OMIM: 243800

Date introduced: August 25, 2010

MeSH Unique ID: C535880

Heading Mapped to:

• Anus, Imperforate
• Ectodermal Dysplasia
• Growth Disorders
• Hearing Loss, Sensorineural
• Hypothyroidism
• Intellectual Disability
• Nose/abnormalities
• Pancreatic Diseases

Entry Terms:

• Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness
• Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency
• Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia
• Johanson-Blizzard Syndrome
• Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness