[…] 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]

  We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus [link.springer.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]

• 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]

• 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]

  We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus [link.springer.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]

• Microdontia

  Hypoproteinemia Decreased protein levels in blood 0003075 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lacrimation abnormality Abnormality of tear production 0000632 Microdontia [rarediseases.info.nih.gov]

• 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]

• 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]

• Eruptions

  […] 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 [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]

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]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

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]

A better prognosis can be achieved by treating pancreatic insufficiency and hypothyroidism separately. [news-medical.net]

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]

Epidemiology JBS is predicted to affect 1 in every 250,000 people. There is no gender difference in JBS cases reported to date. Consanguinity between parents is a common occurrence. [news-medical.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 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. 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". 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]