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Disease Profile
Johanson-Blizzard syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
JBS; Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
Categories
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Summary
Johanson-Blizzard
Symptoms
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.
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 |
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 |
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 |
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 |
0000819 | ||
Dilated |
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 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular |
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 |
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 | |
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 |
Conditions with similar signs and symptoms from Orphanet
|
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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.
|
Organizations
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
-
About Face International
51 Wolseley Street
Toronto, ON M5T 1A4
Canada
Toll-free: 1-800-665-3223
Telephone: +1-416-597-2229
Fax: +1-416-597-8494
E-mail: [email protected]
Website: https://www.aboutface.ca/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/ -
Hearing Loss Association of America
7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Telephone: +1-301-657-2248
E-mail: [email protected]
Website: https://www.hearingloss.org/
Organizations Providing General Support
-
Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset, Intl DT2 9FA
United Kingdom
Telephone: 01308 898445
Fax: 01308 898445
Website: https://www.restrictedgrowth.co.uk
Learn more
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.
References
- Johanson-Blizzard Syndrome. NORD. 2013; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1089/viewAbstract. Accessed 11/30/2015.
- Zenker M. Johanson-Blizzard syndrome. Orphanet; July 2016; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2315.
- Shelton CA & Whitcomb DC. Genetics and Treatments Options for Recurrent Acute and Chronic Pancreatitis. Curr Treat Options Gastroenterol. September, 2014; 12(3):359–371. https://www.ncbi.nlm.nih.gov/pubmed/24954874. Accessed 11/30/2015.
- Hurst JA & Baritser M. Johanson-Blizzard syndrome. J Med Genet. January, 1989; 26(1):45–48. https://www.ncbi.nlm.nih.gov/pubmed/2645405.
- Godbole K, Maja S, Leena H & Martin Z.. Johanson-blizzard syndrome. Indian Pediatr. May 8, 2013; 50(5):510-2. https://www.indianpediatrics.net/may2013/510.pdf.
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