National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Johanson-Blizzard syndrome

Información en español


Other Names:
JBS; Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
Categories:
Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Many symptoms are present at birth or early childhood. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to thrive, contributing to short stature; abnormalities of permanent teeth; distinctive skull and facial features; and/or varying degrees of intellectual disability. JBS can be caused by changes (mutations) in the UBR1 gene and is inherited in an autosomal recessive manner.The treatment focuses on the specific symptoms that are present in each individual and may include pancreatic enzyme supplements (e.g., oral pancreatin) and vitamin supplements.[1]
Last updated: 11/30/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 71 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal hair pattern
Abnormal distribution of hair
0010720
Alopecia
Hair loss
0001596
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Malabsorption
Intestinal malabsorption
0002024
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
30%-79% of people have these symptoms
Abnormal vagina morphology 0000142
Absent lacrimal punctum 0001092
Anal atresia
Absent anus
0002023
Anemia
Low number of red blood cells or hemoglobin
0001903
Anteriorly placed anus 0001545
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Hypoproteinemia
Decreased protein levels in blood
0003075
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Lacrimation abnormality
Abnormality of tear production
0000632
Microdontia
Decreased width of tooth
0000691
Oligodontia
Failure of development of more than six teeth
0000677
Sensorineural hearing impairment 0000407
5%-29% of people have these symptoms
Abnormal cardiac septum morphology 0001671
Abnormality of the nares
Abnormality of the nostrils
0005288
Cholestasis
Slowed or blocked flow of bile from liver
0001396
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Dextrocardia
Heart tip and four chambers point towards right side of body
0001651
Diabetes mellitus 0000819
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Edema
Fluid retention
Water retention
[ more ] 		0000969
Hepatic failure
Liver failure
0001399
Hydronephrosis 0000126
Hypoplasia of penis
Underdeveloped penis
0008736
Hypospadias 0000047
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Percent of people who have these symptoms is not available through HPO
Abnormality of the nail 0001597
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth
[ more ] 		0006349
Anasarca 0012050
Aplasia cutis congenita of scalp 0007385
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal recessive inheritance 0000007
Cafe-au-lait spot 0000957
Calvarial skull defect
Cranial defect
Skull defect
[ more ] 		0001362
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Clitoral hypertrophy
Enlarged clitoris
0008665
Colonic diverticula 0002253
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] 		0000444
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Death in childhood 0003819
Dilatation
Wider than typical opening or gap
0002617
Fair hair
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)
[ more ] 		0002286
Frontal upsweep of hair
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ] 		0002236
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hypocalcemia
Low blood calcium levels
0002901
Hypoplasia of the primary teeth
Decreased size of baby teeth
Decreased size of milk teeth
Small baby teeth
Small milk teeth
Underdevelopment of baby teeth
Underdevelopment of milk teeth
[ more ] 		0006334
Hypoplastic nipples
Small nipples
0002557
Hypothyroidism
Underactive thyroid
0000821
Increased VLDL cholesterol concentration 0003362
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Micropenis
Short penis
Small penis
[ more ] 		0000054
Midline skin dimples over anterior/posterior fontanelles 0005498
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Septate vagina
Double vagina
0001153
Single transverse palmar crease 0000954
Situs inversus totalis
All organs on wrong side of body
0001696
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] 		0002209
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Urethrovaginal fistula 0008716
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Showing of 71 |
Last updated: 7/1/2020
Johanson-Blizzard syndrome is caused by mutations (changes) to the UBR1 gene. This gene provides instructions to the body to produce a protein that is important for the function of the pancreas. This protein is produced in specific cells in the pancreas called acinar cells. Acinar cells are important because they help produce digestive enzymes which allow the pancreas to break down food and use the food products for growth (malabsorption). Because people with Johanson-Blizzard syndrome have a UBR1 gene that is not functioning correctly, the acinar cells of the pancreas are destroyed and the pancreas cannot break down fats and other nutrients as well.[2] This leads to many of the symptoms of JBS such as slow growth.

Johanson-Blizzard syndrome is inherited in an autosomal recessive manner. This means that both copies of the UBR1 gene (one inherited from the mother and one inherited from the father) are not working in people who have JBS. Any future children with the same mother and father will have a 25% chance of having JBS. 
Last updated: 12/31/2016
Johanson-Blizzard syndrome is inherited in an autosomal recessive manner. This means that both copies of the UBR1 gene (one inherited from the mother and one inherited from the father) have a mutation and are not working.[1][2]

Affected people inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier
For someone who has Johanson-Blizzard, they have a mutation in both copies of their UBR1 gene. When that individual goes to have children, they will automatically pass on one mutation to their child, making their child a carrier. The only way for the child to be affected is if their other parent is a carrier for Johanson-Blizzard syndrome and also passes on a copy of the gene with a mutation, resulting in the child inheriting two mutations in the UBR1 gene. 
Last updated: 1/25/2018
The treatment of Johanson-Blizzard syndrome focuses on the specific symptoms that are present in each individual. Those with pancreatic insufficiency may require pancreatic enzyme supplements (e.g., oral pancreatin) to promote proper absorption of fats and other necessary nutrients. Vitamin supplements may also be needed to prevent or treat vitamin deficiencies that may result from malabsorption due to pancreatic insufficiency. A special diet with easily-absorbed, high-protein supplements may also be prescribed to ensure that total nutritional requirements are met. Although these therapies usually lead to improved nutrient absorption and weight gain, most affected children still remain smaller and shorter than average for their ages. A surgery for pancreas removal (pancreatectomy) and with islet autotransplantation (TPIAT) should be used only as a last resort for patients with severe symptoms of pancreatitis.[3]
 
Individuals with hypothyroidism may need thyroxine hormone replacement therapy. Other abnormalities such as craniofacial, genitourinary, cardiac, and/or other malformations associated with the condition may be treated with surgery. Dental abnormalities may be treated with bonding agents, use of dentures, and/or other techniques. Hearing loss may be treated with hearing aids. Early intervention is important to ensure that children with JBS reach their full potential. Affected children may benefit from special remedial education, special social support, and other medical, social, and/or vocational services.[3]
Last updated: 11/30/2015
The severity of the symptoms in Johanson-Blizzard syndrome (JBS) varies. While some patients may develop life-threatening complications during infancy, other have a less severe disease. Although intellectual disability does occur, in some cases, intelligence is normal. Hearing loss or deafness may be present at birth or may develop later during life. Growth deficiency associated with JBS may occur because of malabsorption and exocrine pancreatic insufficiency. Without treatment, impairment of the pancreas and malabsorption can progress to cause life-threatening complications like infections and malnutrition. Specific treatment of the pancreatic insufficiency and hypothyroidism can result in a better outlook.[1][4]

Life expectancy depends more in the pancreatic insufficiency and the malnutrition that may lead to death in infancy or early childhood, but for patients managed early with efficient pancreatic enzyme and vitamin supplementation, survival into adulthood is not rare.[4][5]
Last updated: 3/8/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes cystic fibrosis, Shwachman-Diamond syndrome, Pearson Marrow-Pancreas syndrome, partial pancreatic agenesis (for congenital exocrine pancreatic insufficiency), oculodentodigital dysplasia (for hypoplasia of the alae nasi) and Adams-Oliver syndrome (for aplasia cutis congenita) (see these terms).
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Johanson-Blizzard syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My younger son has Johanson Blizzard syndrome. He has arrested growth, hearing loss, some teeth disappearance and pancreatic insufficiency. He was also diagnosed with pure red cell aplasia. How can we help pancreatic insufficiency, which helps with growth? Is there any help for hearing impairment? See answer


  1. Johanson-Blizzard Syndrome. NORD. 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1089/viewAbstract. Accessed 11/30/2015.
  2. Zenker M. Johanson-Blizzard syndrome. Orphanet; July 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2315.
  3. Shelton CA & Whitcomb DC. Genetics and Treatments Options for Recurrent Acute and Chronic Pancreatitis. Curr Treat Options Gastroenterol. September, 2014; 12(3):359–371. http://www.ncbi.nlm.nih.gov/pubmed/24954874. Accessed 11/30/2015.
  4. Hurst JA & Baritser M. Johanson-Blizzard syndrome. J Med Genet. January, 1989; 26(1):45–48. http://www.ncbi.nlm.nih.gov/pubmed/2645405.
  5. Godbole K, Maja S, Leena H & Martin Z.. Johanson-blizzard syndrome. Indian Pediatr. May 8, 2013; 50(5):510-2. http://www.indianpediatrics.net/may2013/510.pdf.