Johanson-Blizzard Syndrome

Important
It is possible that the main title of the report Johanson-Blizzard Syndromeis not the name you expected.

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 for Children's Growth
6645 W. North Avenue
Oak Park
IL
60302
Tel: (708)383-0808
Fax: (708)383-0899
800: (800)362-4423
mary@magicfoundation.org
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
maryk@nfed.org
http://www.nfed.org

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga
TN
37401
Tel: (423)266-1632
Fax: (423)267-3124
800: (800)332-2373
faces@faces-cranio.org
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
chaser@compuserve.com
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
http://www.restrictedgrowth.co.uk

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643National 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
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
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov

NIH/National Institute of Dental and Craniofacial Research
Tel: (301)496-4261
Fax: (301)496-9988
nidcr@nih.gov
http://www.nidcr.nih.gov/

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

American Academy of Audiology
11730 Plaza America
#300
Reston
VA
20190
Tel: (703)790-8466
Fax: (703)790-8631
800: (800)222-2336
info@audiology.org
http://www.audiology.org

Ectodermal Dysplasia Society
108 Charlton Lane
Cheltenham
Glos.
GL53 9EA
England
Tel: +44 1242 261332
diana@ectodermaldysplasia.org
http://www.ectodermaldysplasia.org

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

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: 4/28/2008
Copyright 1997, 1998, 2002 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 28, 2008

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