Johanson-Blizzard Syndrome

National Organization for Rare Disorders, Inc.

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

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

Disorder Subdivisions

  • None

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.
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Resources

MAGIC Foundation
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

National Foundation for Ectodermal Dysplasias
410 East Main Street
PO Box 114
Mascoutah, IL 62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
Email: info@nfed.org
Internet: http://www.nfed.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, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
USA
Tel: (419)825-5575
Fax: (419)825-2880
Email: myer106w@wonder.em.cdc.gov
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

Restricted Growth Association
RGA Office
PO Box 1024
PETERBOROUGH, Intl PE1 9GX
United Kingdom
Tel: 01733 759458
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/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
Tel: (703)790-8466
Fax: (703)790-8631
Tel: (800)222-2336
Email: infoaud@audiology.org
Internet: http://www.audiology.org

Ectodermal Dysplasia Society
108 Charlton Lane
Cheltenham
Glos, GL53 9EA
England
Tel: +44 (0) 1242 261332
Fax: +44 (0) 1242 261332
Email: diana@ectodermaldysplasia.org
Internet: http://www.ectodermaldysplasia.org

For a Complete Report

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

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