Living with Johanson-Blizzard syndrome
A very rare genetic condition affecting digestion, growth, teeth, and the face, sometimes with intellectual disability.
Understanding Johanson-Blizzard syndrome
The pancreas does not develop normally, so the body cannot absorb fats and other nutrients well (pancreatic insufficiency). Children grow slowly and are short. Other features include problems with permanent teeth, distinctive skull and face features, and different degrees of intellectual disability. Severity varies. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor digestion from low pancreatic enzymes
- Slow weight gain (failure to thrive)
- Short stature
- Tooth differences (missing or small teeth)
- Hair loss or abnormal hair pattern
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in UBR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hearing Loss Association of America, Little People of America and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hearing Loss Association of America, Little People of America, National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hearing Loss Association of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the UBR1 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: jbs; nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness; pancreatic insufficiency, combined exocrine
Patient organizations
- Hearing Loss Association of AmericaJohanson-Blizzard syndrome · United States
- Little People of AmericaJohanson-Blizzard syndrome · United States
- FACES: The National Craniofacial AssociationJohanson-Blizzard syndrome · United States
- Pull-thru NetworkJohanson-Blizzard syndrome · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Pituitary Network AssociationPituitary deficiencies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Johanson-Blizzard syndrome.
Explore research for Johanson-Blizzard syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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