Johanson-Blizzard Syndrome

Important

It is possible that the main title of the report Johanson-Blizzard Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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• JBS
• Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Cong. Deafness
• Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency
• Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia

Disorder Subdivisions

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• None

General Discussion

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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.

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Resources

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MAGIC Foundation for Children's Growth

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



FACES: The National Craniofacial Association

P.O. Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



Congenital Heart Anomalies, Support, Education, & Resources

2112 North Wilkins Road

Swanton, OH 43558

Tel: (419)825-5575

Fax: (419)825-2880

Email: chaser@compuserve.com

Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html



Restricted Growth Association

P.O. Box 4744

Dorchester

Dorset, Intl DT2 9FA

United Kingdom

Tel: 01308 898445

Fax: 01308 898445

Internet: http://www.restrictedgrowth.co.uk



National Craniofacial Foundation

3100 Carlisle Street

Suite 215

Dallas, TX 75204

Tel: (800)535-3643



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

United Kingdom

Tel: 01560 322024

Internet: http://www.naspcs.co.uk/



NIH/National Digestive Diseases Information Clearinghouse

2 Information Way

Bethesda, MD 20892-3570

Tel: (301)654-3810

Fax: (301)907-8906

Tel: (800)891-5389

Email: nddic@info.niddk.nih.gov

Internet: http://www.niddk.nih.gov



NIH/National Institute of Dental and Craniofacial Research



Tel: (301)496-4261

Fax: (301)496-9988

Email: nidcr@nih.gov

Internet: http://www.nidcr.nih.gov/



American Academy of Audiology

11730 Plaza America

#300

Reston, VA 20190

Tel: (703)790-8466

Fax: (703)790-8631

Tel: (800)222-2336

Email: info@audiology.org

Internet: http://www.audiology.org

For a Complete Report

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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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   6/28/2002

Copyright   1997, 1998, 2002 National Organization for Rare Disorders, Inc.