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]

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

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]

The patient presented here had typical facial features and exocrine pancreatic insufficiency, this combination is pathognomonic for JBS. [wjgnet.com]

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. [rarediseases.org]

• 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]

  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]

  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 morphology 0000142 Absent lacrimal punctum 0001092 Anal atresia [rarediseases.info.nih.gov]

• Death in Infancy

  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]

  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 [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]

• 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]

  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 [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]

  […] right side of the chest),[1] atrial and ventricular septal defect;[1] low birth-weight,[24] failure to thrive,[24] hypotonia (decreased muscle tone);[19] sacral hiatus (a structural deficiency of the sacral vertebrae),[24] congenital cataracts,[24] and cafe-au-lait [en.wikipedia.org]

• 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]

  impaired.[12][17] Special education, specialized counseling methods and occupational therapy designed for those with mental retardation have proven to be effective, for both the patient and their families.[31] This, too, is carefully considered for JBS [en.wikipedia.org]

• Beaked Nose

  She had a FIG. 1 Patient at age of 12 days: Characteristic facies with beaked nose, hypoplastic alae nasi, long philtrum with thin upper lip and frontal hirsutism with upsweep of hair. INDIAN PEDIATRICS 510 VOLUME 50 __ MAY 16, 2013 [yumpu.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]

• Beak Nose

  She had a FIG. 1 Patient at age of 12 days: Characteristic facies with beaked nose, hypoplastic alae nasi, long philtrum with thin upper lip and frontal hirsutism with upsweep of hair. INDIAN PEDIATRICS 510 VOLUME 50 __ MAY 16, 2013 [yumpu.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]

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]

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 :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. PMID 8071749. a b Nagashima K, Yagi H, Kuroume T (Feb 1993). [en.wikipedia.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]

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