Disease Information for Johanson Blizzard genetic syndrome (unco)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Beaked nose/congenital
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Prominent Nose
Hair coarse/stiff
Scalp Defects/Agenesis
Sparse hair distribution/Hypotrichosis
Unusual hair frontal upsweep
Low birth weight/newborn/SGA/Small for gestational age
Anorexia in Infant
Chronic Diarrhea in a Child
Diarrhea
Diarrhea and Weight Loss
Diarrhea, chronic
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Poor weight gain/child
Weight loss in Children
Small teeth/microdontia/pegs
Teeth malformed/dysplastic
Intelligence normal
Mental Deficiency Child
Speech Locution Problems
Psychomotor retardation
Dysmorphic dwarfism/short stature
Depressed nasal tip
Snoring
Dysmorphic appearance/face
Short stature
Short stature Child
Weight Loss
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Dwarfism
Sex & Age Groups
Population/Child
Population/Children/all
Population/Infant
Population/Neonate-newborn
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Deafness
Deafness, congenital
Deafness, sensorineural
Dental deformities/anomalies
Facial dysplasia
Growth retardation/failure
Hypothyroidism (myxedema)
Imperforate anus
Johanson Blizzard congenital syndrome
Mental retardation
Pancreatic insufficiency
Agenesis Nasal Cartilage
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal Recessive Incomplete Penetrance
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Johanson Blizzard genetic syndrome, Synonym/JBS hypoplasia of nostrils dysmorphia
Definition

Johanson Blizzard Syndrome; Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency;JBS; Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia; Nasal Alar Hypoplasia; Hypothyroidism, Pancreatic Achylia ;Cong. Deafness; Johanson-Blizzard Syndrome (JBS) is extremely rare inherited recessive with dysmorphia: a small nose "beak shaped" due to absence (aplasia) or hypoplasia of the nostrils nasal alae ; abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth; and/or unusually sparse, dry, coarse scalp hair that tends to have a distinctive "upsweep" in the forehead area; low birth weight, insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency); failure to thrive during the first years; short stature; hypothyroidism; generalized weakness and contributing to growth retardation and developmental delay , psychomotor retardation; congenital bilateral sensorineural hearing loss with severe speech impairment; 60 percent of affected have moderate mental retardation; others may have normal intelligence or mild retardation; Johanson-Blizzard Syndrome has autosomal recessive inheritance with variable penetrance (NORD 2005)---------------------------------------------------

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External Links Related to Johanson Blizzard genetic syndrome (unco)
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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