Johanson-Blizzard Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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.
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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 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