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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A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness. Possible explanations for this new association are discussed. Usually detected at birth when beak-shaped nasal defect is associated with an imperforate anus. Early intervention is important to ensure that children with JBS reach their potential.

Rare congenital syndrome associated with profound hearing loss. Mean corpuscular volume; RBC: In individuals with JBS, intestinal malabsorption results in large, loose, foul smelling stools that contain an excessive amount of fat steatorrhea and other nutrients. Johanson-Blizzard syndrome The pancreasand its location within the digestive system. Ubiquitin-mediated degradation of proteins occurs through the N-end rule pathway. In cystic fibrosis, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection.

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

Diagnosis A diagnosis of may be suspected based upon identification of characteristic symptoms e. Comparisons may be useful for a differential diagnosis.

Autosomal recessive disease of exocrine glands, involving many organs resulting in meconium ileus, chronic respiratory infections, pancreatic enzyme insufficiency with digestive malabsorption, and end-stage lung disease. Although intellectual disability does occur, in some cases, intelligence is normal. The features and physical findings associated with JBS can vary greatly from one person to another. They stated that the girls reported as cases of trypsinogen deficiency see by Morris and Fisher and Townes had in fact this syndrome, as did a patient with the XXY Klinefelter syndrome reported by Grand et al.


Affected infants and children may also experience delays in achieving developmental milestones developmental delays and exhibit varying degrees of intellectual disability. Parental consanguinity is frequently observed.

Rapid Recognition and Perioperative Implications. The pregnancy was terminated at 21 weeks’ gestation. Hypospadias was detected, and the anus was narrow and displaced anteriorly. The risk is the same for males and females.

Johanson–Blizzard syndrome – Wikipedia

Pancreatic insufficiency is a common, prominent feature of JBS. J Pediatr Endocrinol Metab. Views Read Edit View history. 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.

Eventually, it is possible that endocrine pancreatic insufficiency will develop.

Detailed information Professionals Guidance for genetic testing Englishpdf. Lack of appropriate insulin production results in diabetes. Human body cells normally have 46 chromosomes.

In infants, anemia caused by iron, vitamins and trace element deficiencies are unusual before the age of 6 mo, but in this patient the nutritional consequences of malabsorption might have appeared earlier due to many factors such as low birth weight, malnutrition in the mother and hypothyroidism in which normochromic, normocytic anemia may be secondary to reduced red blood cell production and reduced red cell survival.

Affected brothers were reported by Day and Israel A small beak-like nose due to aplasia or hypoplasia of the alae nasiand exocrine pancreatic insufficiency are considered the most consistent manifestations, while others features Table 1 occur at varying frequencies in the affected patients.


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. Congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and short stature; imperforate anus and Hirschsprung disease can be associated with this syndrome.

UBR1 deficiency may contribute to gradual destruction of previously formed acinar cells starting prenatally, thereby leading to pancreatic enzymes deficiency. Although we cannot exclude these possibilities, the fact that the hematologic disease resolved after efficient pancreatic enzyme and vitamin supplementation suggests a major contribution of malnutrition.

These include hypothyroidism[2] growth hormone deficiency [1] [8] and hypopituitarism.

Johanson–Blizzard syndrome

Specialised Social Services Eurordis directory. The maximum 2-point lod score was 4. Mutations in the human UBR1 gene and the associated phenotypic spectrum. To identify the locus mutated in JBS, Zenker et al. Vesicoureteric reflux, hypospadiaand duplex of uterine and vagina[ 8 ]. Other abnormalities, affecting the scalp, headfacejaw and teeth may be found with JBS.

Black shading indicates identical residues. Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Routine laboratory tests revealed the following results: Usually growth retardation is only postnatal, but intrauterine growth retardation may be found in association with cardiac congenital abnormalities. Growth deficiency associated with JBS may occur because of malabsorption and exocrine pancreatic insufficiency.

Although malabsorption due to pancreatic insufficiency may blizsard cause problems with growth and nutrition, short stature appears to be one of the many primary manifestations of Shwachman syndrome.