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.

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Cystic fibrosis is characterized by abnormalities affecting certain glands exocrine of the blizard especially those that produce mucus. The second sib, a male born 3 years later, also had the same facies and imperforate anus which was successfully treated surgically. In JBS, however, affected individuals lack a sufficient number of properly functioning acinar cells, and pancreatic tissue may be replaced by abnormal accumulations of johandon.

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: Oblique facial clefts in Johanson-Blizzard syndrome. Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Whole body X-ray, abdominal ultrasound, brain computed tomography CT scan, and temporal bone CT scan were normal. The genetic defect causing the disease was unknown untilwhen it was shown to result from mutations of the UBR1 gene located on chromosome 15q Autopsy showed a small thyroid filled with colloid, almost complete replacement of the pancreas with fat, and abnormal gyral formation and cortical neuronal organization in the brain.

By using this site, you agree to the Terms of Use and Privacy Policy. Based on this evidence we regarded p. To identify the locus mutated in JBS, Zenker et al. Parental consanguinity was reported also by Schussheim et al. In addition, in some cases, affected males and females may demonstrate abnormal swelling distention of and accumulation of urine in the kidneys hydronephrosis.

Findings with the inner ear in JBS give explanation to the presence of bilateral sensorineural hearing loss in most patients affected by the disorder. CS1 Croatian-language sources hr Infobox medical condition new Articles to be expanded syndroe May All articles to be expanded Articles with empty sections from May All articles with empty sections Articles using small message boxes. Endocrinology and Metabolism Clinics of North America.


The pancreas of individuals with JBS showed acinar tissue loss that increased with gestational age and was accompanied by inflammatory infiltrates, most prominent in the near-term fetus.

Fewer than 50 patients reported in the literature. Family history revealed 3 prior abortions in the mother. Deficient levels of functional UBR1 protein ultimately result in the findings and physical features of JBS by mechanisms that are poorly understood, to date. They identified a region of homozygosity on 15q shared by individuals originating from all consanguineous families.

Special education, specialized counseling methods and occupational therapy designed for those with mental retardation have proven to be effective, for both the patient and their families.

Infants with JBS typically have distinctive craniofacial abnormalities at birth. Other clinical features include clinodactyly, hip dysplasia, and Standard Therapies Treatment The treatment of JBS is directed toward the specific symptoms that are apparent in each individual. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.

Johanson-Blizzard syndrome

Cholestatic liver disease one case [ 15 ]. You can also find results for a single author or contributor. In other projects Wikimedia Commons. Genetic counseling Transmission is autosomal recessive.

Affected brothers were reported by Day and Israel Johanson-Blizzard syndrome-A case study of oral and systemic manifestations. A syndrome of congenital hypoplasia zyndrome the alae nasi, situs inversus, and severe hypoproteinemia in two siblings. A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.

Rare Disease Database

Impaired glucagon secretion response to insulin induced hypoglycemia[ 18 ]. Johanson-Blizzard syndrome JBS is a rare autosomal recessive disorder, first described in by Johanson and Blizzard[ 1 ]. Congenital malformations and deformations of digestive system Q35—Q45— Multiple protein alignement http: Males have one X and one Y chromosome and females have two X chromosomes. Most cases of JBS are caused by mutations of UBR1 gene 15q13 which encodes a protein highly expressed in pancreatic acinar cells.


The primary malformation apparent with JBS is hypoplasia underdevelopment of uohanson nasal alae, or ” wing of the nose “. Both insulin resistance and diabetes have been observed with JBS, and it is suggested that diabetes should be johansno as a complication of JBS and its course. It is important that affected infants and children be screened for the development of potentially serious complications including congenital heart defects, hypopituitarism, hypothyroidism, and juvenile-onset diabetes.

The teeth that do appear may also be abnormally small and malformed symdrome short, misshapen roots. In one report in the medical literature, an infant with suspected JBS did not have evidence of pancreatic insufficiency. Johanson-Blizzard joganson The pancreas bliazard, and its location within the digestive system. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.

JBS is a rare autosomal recessive disorder that affects blizzar systems with a wide range of congenital abnormalities. He has gained weight, although still below the 3rd centile, and blood cell counts had normalized Table 2.

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