Diseases & Conditions


Johanson-Blizzard Syndrome

Synonyms of Johanson-Blizzard Syndrome
  • Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency
  • JBS
  • Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia
  • Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Cong. Deafness

Disorder Subdivisions

    General Discussion
    Johanson-Blizzard Syndrome (JBS) is an extremely rare inherited disorder characterized by an unusually small nose that appears beak shaped due to absence (aplasia) or underdevelopment (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. In addition, affected infants may have a low birth weight, demonstrate signs of insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency), and fail to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature.

    Approximately one third of infants with Johanson-Blizzard Syndrome also demonstrate abnormally decreased activity of the thyroid gland and underproduction of thyroid hormones (hypothyroidism), causing generalized weakness and contributing to growth retardation as well as abnormal delays in the acquisition of skills requiring the coordination of mental and physicial activity (psychomotor retardation). In many cases, affected infants may also exhibit hearing impairment of both ears at birth due to abnormalities of the inner ear (congenital bilateral sensorineural hearing loss) and may experience associated, severe speech impairment. In addition, approximately 60 percent of affected children have moderate mental retardation; however, others may have normal intelligence or mild retardation. In many cases, additional abnormalities may also be present. The range and severity of symptoms may vary greatly from case to case. Johanson-Blizzard Syndrome has autosomal recessive inheritance.

    Organizations related to Johanson-Blizzard Syndrome
    • American Academy of Audiology
      11730 Plaza America
      Reston VA 20190
      Phone #: 703-790-8466
      800 #: 800-222-2336
      e-mail: [email protected]
      Home page: http://www.audiology.org
    • Congenital Heart Anomalies, Support, Education, & Resources
      2112 North Wilkins Road
      Swanton OH 43558
      Phone #: 419-825-5575
      800 #: --
      e-mail: [email protected]
      Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
    • Ectodermal Dysplasia Society
      108 Charlton Lane
      Glos. None GL53 9EA
      Phone #: +44- 12-42 261332
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.ectodermaldysplasia.org
    • FACES: The National Craniofacial Association
      P.O. Box 11082
      Chattanooga TN 37401
      Phone #: 423-266-1632
      800 #: 800-332-2373
      e-mail: [email protected]
      Home page: http://www.faces-cranio.org
    • MAGIC Foundation for Children's Growth
      6645 W. North Avenue
      Oak Park IL 60302
      Phone #: 708-383-0808
      800 #: 800-362-4423
      e-mail: [email protected]
      Home page: http://www.magicfoundation.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      Home page: http://www.netnet.net/mums/
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: [email protected]
      Home page: http://www.niddk.nih.gov
    • NIH/National Institute of Dental and Craniofacial Research
      None None None
      Phone #: 301-496-4261
      800 #: --
      e-mail: [email protected]
      Home page: http://www.nidcr.nih.gov/
    • National Advisory Service to Parents of Children with a Stoma (NASPCS) - The Charity for Incontinent and Stoma Children
      51 Anderson Dr
      Darvel, Ayrshire Ayrshire Intl KA17 0DE
      Phone #: 015-60 -322024
      800 #: --
      e-mail: N/A
      Home page: http://www.naspcs.co.uk/
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • National Foundation for Ectodermal Dysplasias
      410 East Main Street
      Mascoutah IL 62258-0114
      Phone #: 618-566-2020
      800 #: --
      e-mail: [email protected]
      Home page: http://www.nfed.org
    • Restricted Growth Association
      P.O. Box 4744
      Dorset Intl DT2 9FA
      Phone #: 013-08 -898445
      800 #: --
      e-mail: N/A
      Home page: http://www.restrictedgrowth.co.uk

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html