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: Grokus Tugis
Country: Honduras
Language: English (Spanish)
Genre: Politics
Published (Last): 18 October 2007
Pages: 57
PDF File Size: 19.12 Mb
ePub File Size: 20.27 Mb
ISBN: 801-1-75548-493-4
Downloads: 7414
Price: Free* [*Free Regsitration Required]
Uploader: Mutaxe

Times Cited of This Article. The precise pathophysiological link between altered protein degradation and the clinical anomalies observed in JBS remains to be determined. Alzheimer’s disease Huntington’s disease Creutzfeldt—Jakob disease chaperonins: Blixzard therapies for the treatment of JBS are symptomatic and supportive.

Prakash C, Clouse RE. 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. Pearson blizzrad syndrome is an extremely rare genetic disorder in which red blood cells have an impaired ability to carry oxygen sideroblastic anemia. Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. The treatment of JBS is directed toward the specific symptoms that are apparent in each individual.

Lijec Vjesn in Croatian. Affected Populations JBS affects males and females in equal numbers. Molecular testing of UBR1 confirms the diagnosis. Check patient development and nutritional status.

Congenital disorders of digestive system Autosomal recessive disorders Rare syndromes Syndromes with mental retardation Genodermatoses Syndromes affecting the gastrointestinal tract Syndromes affecting the endocrine system. They identified a region of homozygosity on 15q shared by individuals originating from all consanguineous families.


Machado—Joseph disease Aneurysmal bone cyst Multiple familial trichoepithelioma 1.

Other abnormalities, affecting the scalp, headfacejaw and teeth may be found with JBS. A number sign is used with this entry because the Johanson-Blizzard syndrome JBS bluzzard caused by homozygous or compound syndome mutation in the UBR1 gene on chromosome 15q. In some instances more severe facial clefting has been observed including cleft lip and palate and lateral facial clefts extending from the nasal region to the lower eyelid.

Although intellectual disability does occur, in some cases, intelligence is normal. By using this site, you agree to the Terms of Use and Privacy Policy.

Rare Disease Database

Additional tests may be performed to assess the severity of JBS in each individual. Alone we are rare.

Italic letters show common features. The thyroid gland, located at the base of the neck, syndrom hormones e. Impaired glucagon secretion response to insulin induced hypoglycemia[ 18 ].

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

Sequencing in the index patient revealed a homozygous mutation in exon He received 3 blood transfusions. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The disorder is especially noted for causing profound developmental errors and shndrome dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease.

American Journal of Medical Genetics.

Johanson–Blizzard syndrome

Johansonn a review of JBS by Hurst and Baraitserit was indicated that 11 of 22 reported children had anorectal abnormalities, most often imperforate anus. Hearing loss or deafness may be present at birth or may develop later during life. They further analyzed this region by typing additional microsatellite markers from the draft human genome sequence and refined the candidate region to a 7.


The male proband of Mardini et al.

CC ]. Infants and children with JBS can potentially develop additional finding and physical features including small, underdeveloped nipples, reversal of the normal position of certain organs within the chest snydrome inversuscongenital heart defects, decreased function of the pituitary gland hypopituitarismand an abnormally high susceptibility to repeated infections. Growth and mental retardation are common, and imperforate anus is almost always present.

Alae nasi aplasiaAnemiaCutis aplasiaExocrine pancreatic insufficiencyJohanson-Blizzard syndrome. Elsevier Saunders, Philadelphia, PA; D ICD – Pancreatic endocrine insufficiency in JBS can be associated with either a buildup of connective tissue in the islet regions, congenital replacement of the islets with fatty tissue, or improper nerve signalling to the islets.

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 blizzrd varying frequencies in the affected patients. Choledochal cysts Caroli disease Biliary atresia.

Hypopituitarism can cause a wide variety of symptoms. Unfortunately, it is not free to produce. Usually growth retardation is only postnatal, but intrauterine growth retardation may be found in association with cardiac congenital abnormalities.