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Johanson Blizzard syndrome

Also Known As:
Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency; Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia; Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness
Networked: 37 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Zenker, Martin: 8 articles (10/2015 - 12/2005)
2. Sukalo, Maja: 4 articles (10/2015 - 01/2011)
3. Mayerle, Julia: 4 articles (05/2014 - 12/2005)
4. Varshavsky, Alexander: 3 articles (01/2011 - 12/2005)
5. Alrajoudi, Abdullah: 2 articles (05/2014 - 10/2011)
6. Alkuraya, Fowzan S: 2 articles (05/2014 - 07/2008)
7. Bozorgmehr, Bita: 2 articles (05/2014 - 12/2008)
8. Lerch, Markus M: 2 articles (05/2014 - 12/2005)
9. Addor, Marie-Claude: 2 articles (05/2014 - 01/2011)
10. Cobben, Jan M: 2 articles (05/2014 - 12/2008)

Related Diseases

1. Exocrine Pancreatic Insufficiency
2. Mental Retardation (Idiocy)
3. Hypothyroidism
05/01/2014 - "Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. "
11/01/1989 - "Exocrine pancreatic insufficiency is one of the recognised features of the Johanson-Blizzard syndrome; other features include hypothyroidism, sensorineural deafness, aplastic alae nasi, developmental delay, and growth retardation. "
12/01/2004 - "Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. "
10/07/2011 - "Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. "
09/01/2010 - "Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. "
4. Deafness (Deaf Mutism)
5. Microcephaly

Related Drugs and Biologics

1. Shwachman syndrome
2. Insulin (Novolin)
3. Ubiquitin
4. Diamond
5. Vitamin B 12 (Cyanocobalamin)
6. Glucagon (Glukagon)
7. Electrolytes
8. Coenzyme A (CoA)
9. Wildervanck syndrome
10. congenital Cataract with microcornea or slight microphthalmia