Disease definition. Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia. Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the . NIH Rare Diseases: Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS.

Author: Bradal Vidal
Country: Pacific Islands
Language: English (Spanish)
Genre: Photos
Published (Last): 15 April 2009
Pages: 198
PDF File Size: 19.21 Mb
ePub File Size: 9.96 Mb
ISBN: 232-8-70269-687-6
Downloads: 45898
Price: Free* [*Free Regsitration Required]
Uploader: Gagrel

In JBS, however, affected individuals lack a johajson number of properly functioning acinar cells, and pancreatic tissue may be replaced by abnormal accumulations of fat.

Johanson-Blizzard Syndrome – NORD (National Organization for Rare Disorders)

Investigators have determined that the UBR1 gene is located on the long arm q of chromosome 15 15qq This is repeated a number of times in succession forming a chain of bkizzard molecules, which is a process referred to as polyubiquitination.

Routine laboratory tests revealed the following results: Polymalformative syndrome characterized by nasal alar hypoplasia beak shapedscalp defects, hypothyroidism, pancreatic achylia, congenital heart defects, and congenital sensorineural deafness. Endocrine insufficiency of the pancreas occurs with JBS, though it is sometimes less common and less pronounced than the more prominent effects on exocrine function.

Nucleotide and amino acid sequence; C: Additional information Further information on this disease Classification s 6 Gene s 1 Clinical signs and symptoms Other website s 5. Annular pancreas Accessory hlizzard Johanson—Blizzard syndrome Pancreas divisum. Disorders of translation and posttranslational modification. Prenatal diagnosis can be done. Affected individuals usually require lifelong pancreatic enzyme supplements e. Citation johansob this article.


Symptoms associated with hypothyroidism, which tend to be progressive in nature, usually become apparent during childhood; however, in rare cases, they may begin to occur during early infancy. Differential diagnosis includes cystic fibrosis, Shwachman-Diamond syndrome, Pearson Marrow-Pancreas syndrome, partial pancreatic agenesis for congenital exocrine pancreatic insufficiencyoculodentodigital dysplasia for hypoplasia of the alae nasi and Adams-Oliver syndrome for syhdrome cutis congenita see these terms.


The child still showed muscular hypotonia and delay in motor milestones. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Diagnosis is confirmed by genetic screening of UBR1. This page was last edited on 4 Novemberat Accessed December 31, The primary malformation apparent with JBS is hypoplasia underdevelopment of the nasal alae, or ” wing of the nose “.

Search Advanced search allows to you precisely focus your query. Please enter User Name Password Error: If your institution subscribes to this resource, and you don’t have a MyAccess Profile, please contact your library’s reference desk for information on how to gain access to this resource from off-campus.

Health care resources for this disease Expert centres Diagnostic tests 58 Patient organisations 81 Orphan drug s 9. Erythropoiesis, granulopoiesis, and lymphopoiesis are normal cellularity and maturity and megakaryocytes are present.


Investigational Therapies Information on current clinical trials is posted on the Internet at www. Cancer in the Africans and Arabs of Zanzibar.

Johanson–Blizzard syndrome

The second sib, a male born 3 years later, also had the same facies and imperforate anus which was successfully treated surgically. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental syndromd Johanson-Blizzard Syndrome.

Choledochal cysts Caroli disease Biliary atresia. The treatment of JBS is directed toward the specific symptoms that are apparent in each individual. Autosomal recessive inheritance appeared to have been clinched, however, by the inbred Saudi Arabian pedigree with 3 affected members 1 male and 2 females reported by Mardini et al. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person syndroe another.

A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness. Johanson-Blizzard syndrome with normal intelligence. In addition to the mild but classic features of the disorder, 1 girl had dilated cardiomyopathy, whereas the other had a small atrial septal defect.

World Journal of Gastroenterology. Italic letters show common features. There was also pitting edema on the feet and hands. Other Hereditary and Acquired Pancreatic Disorders.