[…] to us with chronic diarrhoea and failure to thrive.Case HistoryA 5-months old female child presented to us with a history of not gaining weight accompanied by diarrhoea since the neonatal period. [tropicalgastro.com]

Developmental and intellectual delays of variable degree are present in ~60% of cases. [orpha.net]

DISCUSSION Classic cases of JBS present in early infancy with syndromic features and severe exocrine pancreatic insufficiency. [pancreas.imedpub.com]

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]

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]

  Additional features include dental anomalies (oligodontia/hypodontia (see these terms) of permanent teeth; >90%), sensorineural hearing loss (~75%), scalp defects (aplasia cutis congenital; ~65%), short stature (~60%), hypothyroidism (~40%), microcephaly [orpha.net]

  The main symptoms of the syndrome include the failure of the pancreas to absorb essential nutrients leads to a failure to thrive in many individuals, as well as a short stature, and a low weight. [fdna.health]

  […] 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]

• Single Transverse Palmar Crease

  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 Scalp hair, thinning Sparse, thin scalp [rarediseases.info.nih.gov]

• Feeding Difficulties

  She was born normally at term with a birthweight of 2.45 kg and suffered from a secondary apnea requiring resuscitation followed by feeding difficulties and poor weight gain. [yumpu.com]

• Recurrent Respiratory Infections

  Parents reported repeated hospital admissions for recurrent respiratory infections. Molecular analysis DNA from peripheral blood was extracted using standard method. [indianpediatrics.net]

• Aspiration

  Hb electrophoresis and bone marrow aspiration were normal (Table 2 ). Table 2 Laboratory results of the patient at 5 mo and at 9 mo of age. [wjgnet.com]

• Failure to Thrive

  Clinical description Onset of symptoms is usually during infancy with hallmark features being aplasia/hyposia of nasal alae and pancreatic exocrine insufficiency (presenting in the newborn or young infant with failure to thrive, oily stools and fat-soluble [orpha.net]

  Findings of JBS include craniofacial malformations, EPI, failure to thrive (FTT), hearing loss, developmental delay and anal, genitourinary and other malformations. [journals.lww.com]

  The main symptoms of the syndrome include the failure of the pancreas to absorb essential nutrients leads to a failure to thrive in many individuals, as well as a short stature, and a low weight. [fdna.health]

  […] 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 [rarediseases.info.nih.gov]

• Systolic Murmur

  There was a systolic murmur on auscultation and she was noted to be hypotonic and lethargic. The rest of the systemic examination was normal. [indianpediatrics.net]

• Hearing Impairment

  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 [rarediseases.info.nih.gov]

• Low Set Ears

  There was absence of alae nasi, parrot beak nose, low set ear, patchy alopecia with irregular coarse hair over scalp (Figure 1). Pitting edema was also detected feet on physical examination. [tropicalgastro.com]

  Exocrine pancreatic insufficiency [ 1, 3 - 5 ] Hypoplasia/aplasia of alae nasi [ 1, 4, 6 - 8 ] Scalp defect /aplasia cutis [ 1, 6, 8 ] Sensory neural hearing loss [ 1, 3, 8, 9 ] Bilateral cystic dilation of cochlea, low set ears, and temporal bone defect [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]

• Beaked Nose

  She had a striking facies (Fig. 1) with a small beak-like nose with hypoplastic alae nasi, long narrow upper lip, open mouth with protruding tongue, prominent eyes with palpebral fissures slanting upwards and epicanthic folds. [yumpu.com]

  There was absence of alae nasi, parrot beak nose, low set ear, patchy alopecia with irregular coarse hair over scalp (Figure 1). Pitting edema was also detected feet on physical examination. [tropicalgastro.com]

  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 [rarediseases.info.nih.gov]

• Anisocytosis

  Erythrocyte morphology showed anisocytosis and normochromia. Hb electrophoresis and bone marrow aspiration were normal (Table 2 ). Table 2 Laboratory results of the patient at 5 mo and at 9 mo of age. [wjgnet.com]

• Normocytic Anemia

  […] malnutrition in the mother and hypothyroidism in which normochromic, normocytic anemia may be secondary to reduced red blood cell production and reduced red cell survival. [wjgnet.com]

Management and treatment Treatment includes oral administration of exogenous pancreatic enzymes and nutritional support (high-calorie diet with 30-40% calories from fat, lipase, fat-soluble vitamins and mineral supplementation) for pancreatic insufficiency [orpha.net]

Treatment The treatment for this syndrome is based on the specific symptoms that are evident in each of the cases. [mybiosource.com]

A RESEARCH OF THE OPINION OF DENTISTS FROM PLOVDIV ABOUT THE TREATMENT OF ONE- TO THREE-YEAR-OLD CHILDREN Dimitrova M., Kukleva M., Stoykova. M. 3. [events.umfcv.ro]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.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]

Prognosis Pancreatic insufficiency and complications of severe malnutrition (e.g. severe hypoproteinemia, vitamin deficiency, immunodeficiency) may lead to death in infancy or early childhood. [orpha.net]

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]

Etiology Most cases of JBS are caused by mutations of UBR1 gene (15q13) which encodes a protein highly expressed in pancreatic acinar cells. [orpha.net]

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

Summary Epidemiology The prevalence of JBS in Europe has been estimated to be around 1/250,000 live births. [orpha.net]

EPIDEMIOLOGICAL STUDY OF CHRONIC LEUKEMIA IN SOUTH BULGARIAN POPULATION FOR A 15-YEAR PERIOD Nikorova Zlatka, I. Karnolsky, E. Tcholakova, Vl. Andonov, Zl. Nikolova 11. [events.umfcv.ro]

On the basis of an epidemiological study on anorectal anomalies in Europe,9 a prevalence of roughly 1 in 250 000 life births was estimated.1 So far, no significant or ethnic differences of prevalence have been observed. [nature.com]

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: A disorder of acinar development. J Pediatr 1994; 125: 4068. Google Scholar | ISI7. Trellis, D.R., Clouse, R.E.. Johanson-Blizzard syndrome. [journals.sagepub.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. PubMed Article CAS Google Scholar 6. Helin I, Jodal U. [link.springer.com]

"Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development". The Journal of Pediatrics. 125 (3): 406–408. doi:10.1016/S0022-3476(05)83286-X. [wikidoc.org]

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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]