Clinical presentation There is wide variability in the clinical presentation, but common features are: low birth weight hypotonia intellectual disability (wide range) delayed skeletal maturation, short stature facial features microcephaly aplastic alae [radiopaedia.org]

Case History A 5-months old female child presented to us with a history of not gaining weight accompanied by diarrhoea since the neonatal period. She also had history of pedal edema over the past two months. [tropicalgastro.com]

Additional specialists will help depending on your child’s needs, addressing hearing loss, developmental delay, and any urogenital or anorectal malformations that are present. [chop.edu]

We present an Indian infant with this condition. CASE REPORT A 12-day-old female newborn was referred for Genetics consultation for her unusal facies and congenital heart defect. [yumpu.com]

Usually presents at birth when the nasal hypoplasia is associated with an imperforate anus. Prenatal diagnosis can be done. [accessanesthesiology.mhmedical.com]

• Short Stature

  Clinical presentation There is wide variability in the clinical presentation, but common features are: low birth weight hypotonia intellectual disability (wide range) delayed skeletal maturation, short stature facial features microcephaly aplastic alae [radiopaedia.org]

  Shwachman Syndrome : Congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and short stature; imperforate anus and Hirschsprung disease can be associated with this syndrome. [accessanesthesiology.mhmedical.com]

  […] 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 [rarediseases.info.nih.gov]

  Eventually, affected individuals may exhibit short stature. Affected infants and children may also experience delays in achieving developmental milestones (developmental delays) and exhibit varying degrees of intellectual disability. [rarediseases.org]

  stature [ 1, 11 ] Dental anomalies: oligodontia and absence of permanent teeth [ 1, 6, 7, 11 ] Anorectal anomalies: imperforate anus [ 4, 11, 12 ] Hypotonia, microcephaly, and mental retardation sometimes normal intelligence[ 3, 7, 11 ] lacrimal duct [wjgnet.com]

• Cafe-Au-Lait Spots

  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 [rarediseases.info.nih.gov]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 15q15-q21.1” refers to bands 15-21.1 on the long arm of chromosome 15. [rarediseases.org]

Standard Therapies Treatment The treatment of JBS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Contributors: All authors were involved with the treatment of the patient and writing of the manuscript. VS will act as a guarantor of the case report. All authors approved the manuscript. Funding: None; Competing interests: None stated. [yumpu.com]

Discussion The most common complication of JBS is malabsorbtion syndrome due to exocrine pancreatic insufficiency, which may lead to chronic diarrhoea, anaemia, hypoproteinemia, oedema and infection, ultimately causing death. [6 ] There is no definitive treatment [tropicalgastro.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Infants with JBS typically have distinctive craniofacial abnormalities at birth. [rarediseases.org]

The possible etiologic basis for the hearing loss in this syndrome is discussed and the literature is reviewed. [semanticscholar.org]

No definite etiology could be established. This feature has not been described in previous reports of JBS. [wjgnet.com]

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr. 1994; 125 :406-408. [ PubMed ] 14. Cheung JC, Thomson H, Buncic JR, Héon E, Levin AV. [wjgnet.com]

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr.1994;125:406-408. Gershoni-Baruch R, Lerner A, et al. [rarediseases.org]

In many cases, vitamin supplements (e.g., fat-soluble vitamins A, D, E, K) may also be prescribed to prevent or treat vitamin deficiencies that may result from malabsorption due to pancreatic insufficiency. [rarediseases.org]