Disease Information for Johanson Blizzard genetic syndrome (unco)

Johanson Blizzard Syndrome; Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency;JBS; Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia; Nasal Alar Hypoplasia; Hypothyroidism, Pancreatic Achylia ;Cong. Deafness; Johanson-Blizzard Syndrome (JBS) is extremely rare inherited recessive with dysmorphia: a small nose "beak shaped" due to absence (aplasia) or hypoplasia of the nostrils nasal alae ; abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth; and/or unusually sparse, dry, coarse scalp hair that tends to have a distinctive "upsweep" in the forehead area; low birth weight, insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency); failure to thrive during the first years; short stature; hypothyroidism; generalized weakness and contributing to growth retardation and developmental delay , psychomotor retardation; congenital bilateral sensorineural hearing loss with severe speech impairment; 60 percent of affected have moderate mental retardation; others may have normal intelligence or mild retardation; Johanson-Blizzard Syndrome has autosomal recessive inheritance with variable penetrance (NORD 2005)---------------------------------------------------

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