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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Rapid Recognition and Perioperative Implications. Sequencing in the index patient revealed a homozygous mutation in exon Human body cells normally have 46 chromosomes.

Johanson-Blizzard syndrome

On physical examination, the patient was lethargic, hypotonic, and pale. The defective gene was identified by Zenker, et al.

The unusual and consistent association of JBS with a hematologic phenotype in this family johanon raise different speculations, such as a second autosomal recessive condition that might segregate JBS in this family or a specific function of the UBR1 protein carrying the novel missense mutation. Inter- rather than intrafamilial variability have been described.

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

March 9, Published online: Endocrine insufficiency of the pancreas occurs with JBS, though it johansoj sometimes less common and less pronounced than the more prominent effects on exocrine function. Ductular output of fluids and electrolytes is preserved in the pancreas of many with JBS, as well as moderate to normal levels of functioning bicarbonate.

X-linked spinal muscular atrophy 2 E3: Syndromes of the Head and Neck. Hypoplasia of the exocrine tissue of the pancreas. Affected females may have an abnormal partition dividing the vagina double or septate vaginaunusual enlargement of the elongated organ partially enclosed within the folds of skin surrounding the vaginal opening clitoromegalyan abnormal passage joining the vagina and the tubular structure through which urine is excreted urethrovaginal fistulaand a single urogenital opening orifice.


Other clinical features include clinodactyly, hip dysplasia, and Affected infants and children may also experience delays in achieving developmental milestones developmental delays and exhibit varying degrees of intellectual disability.

Rare Disease Database

The Journal of Pediatrics. The nucleotide substitution c. It contains specialized exocrine cells that secrete enzymes that travel to the intestines and aid in digestion. In some instances more severe johanso clefting has been observed including cleft lip and palate and lateral sundrome clefts extending from the nasal region to the lower eyelid. Leukoencephalopathy with synfrome white matter snRNP: Ubiquitin-mediated degradation of proteins occurs through the N-end rule pathway.

Although the exact incidence is unknown, the frequency has been estimated to be 1 inbirths. A diagnosis of may be suspected based upon identification of characteristic symptoms e. Johanson-Blizzard syndrome JBS is a rare autosomal recessive disorder, first described in by Johanson and Blizzard[ 1 ].

More than 60 cases of this syndrome have been reported to date.

JBS affects males and females in equal numbers. J Pediatr Endocrinol Metab. Alagille syndrome Polycystic liver disease. Additional congenital anomalies, effects on other organsand less common features of JBS have included: Because neutrophils, a type of white blood cell, play an essential role in fighting bacterial infections, many affected individuals are prone to repeated bacterial infections e.

Craniofacial and bliizzard deformities may require surgical correction, using techniques including bone grafts and osteotomy procedures. Endocrine abnormalities in other areas have also been present with the disorder.

The genetic defect causing the disease was unknown until johhanson, when it was shown to result from mutations of the UBR1 gene located on chromosome 15q Findings with the blizzzard ear in Sundrome give explanation to the presence of bilateral sensorineural hearing loss in most patients affected by the disorder.


Information on current clinical trials is posted on the Internet at www. The johansonn of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Check this box if you wish to receive a copy of your message.

The second sib, a male born 3 years later, also had the same facies and imperforate anus which was successfully treated surgically. Pearson marrow-pancreas syndrome is an extremely rare genetic disorder in which red blood cells have an impaired ability to carry oxygen sideroblastic anemia.

Gershoni-Baruch R, Lerner A, et al. The patient presented here had typical facial features and exocrine pancreatic insufficiency, this combination is pathognomonic for JBS. Lijec Vjesn in Croatian. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation Johanson-Blizzard Syndrome. Other abnormalities, affecting the scalp, headfacejaw and teeth may be found with JBS. Taken together, these findings suggested that the main pancreatic defect in individuals with JBS is not perturbed acinar development in early embryogenesis, but rather gradual destruction of syndromee formed acinar cells in maturing fetuses, a process that resembles pancreatitis of intrauterine onset.

In affected individuals, hypothyroidism may result in generalized weakness and fatigue and may blizard to growth retardation and abnormal delays in the acquisition of skills requiring the coordination of mental and physical activity psychomotor retardation.

March 2, Accepted: Genetic counseling Transmission is autosomal recessive. Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome:

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