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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Ubiquitin-mediated degradation of proteins occurs through the N-end rule pathway.


Congenital heart defects include situs inversus and ventricular and septal defects. Treatment may require the coordinated efforts of a team of specialists. Neutropenia is the most common blood abnormality associated with Shwachman syndrome.

Variability of the phenotype, associated with residual ubiquitin ligase activity in some patients, has also been attributed to hypomorphic mutations occasionally found in either johhanson the carrier parents. Multiple protein alignement http: Other Hereditary and Acquired Pancreatic Disorders. About News Events Contact. Epub Apr 9. 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.

Rare Disease Database

Johanson-Blizzard syndrome JBS is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.


Together we are strong. J Pediatr Endocrinol Metab. The primary malformation apparent with JBS is hypoplasia underdevelopment of the nasal alae, or ” wing of the nose “. Additional information Further information on this disease Classification s 6 Gene s 1 Clinical signs and symptoms Other website s 5. Affected Populations JBS affects males and females in equal numbers. Transmission is johannson recessive.

Genetic counseling will be of benefit for affected individuals and their families. For example, in some cases, absent or underdeveloped nasal wings may be surgically reconstructed. Based on this evidence we regarded p. syndromf

This feature has not been described in previous reports of JBS. Sensory neural hearing loss [ 1389 ]. Impaired glucagon secretion response to insulin induced hypoglycemia[ 18 ]. Due to abnormal skeletal changes, individuals with Shwachman syndrome may have abnormal thickening of the ribs and their supporting connective tissue costochondral thickeningresulting in unusually short, flared ribs.

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Summary and related texts. You can help by adding to it. Erythropoiesis, granulopoiesis, and lymphopoiesis are normal cellularity and maturity and megakaryocytes are present.


The patient received oral thyroxine, pancreatic enzyme replacement, multivitamins and strict monitoring to avoid complications.

Johanson-Blizzard syndrome

The molecular basis of clinical disorders of morphogenesis, 2nd ed. Liver sections from Ubr1-null mice did not differ from those of uohanson mice. Molecular testing of UBR1 confirms the diagnosis. Hypotonia, microcephaly, and mental retardation sometimes normal intelligence[ 3711 ]. These include hypothyroidism[2] growth hormone deficiency [1] [8] and hypopituitarism. We are determined to keep this website freely accessible.

Affected infants may also lack of skin and hair aplasia cutis by the soft spots in the front and back of the skull anterior and posterior fontanelles. Other search option s Alphabetical list. Etiology Most cases of JBS are caused by mutations of UBR1 gene 15q13 which encodes syndrkme protein highly expressed in pancreatic acinar cells.

In addition, the infant showed failure to thrive and greasy stools. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Both parents were found to be heterozygous for the mutation.