Symptoma

Johanson-Blizzard Syndrome

Nasal Alar Hypoplasia - Hypothyroidism - Pancreatic Achylia - Congenital Deafness

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]

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

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

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]

  • 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]

    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]

  • 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]

  • 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]

    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]

  • Decrease in Height

    […] 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 Absent anus 0002023 [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]

  • 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 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]

    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]

  • Short Nose

    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]

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]

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]

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]

[…] identity of the amino acid at its N-terminus (the end of the polypeptide with an amino group, which in the ubiquitin system may be involved in the reactive destabilization of the protein).[28][29][30] In JBS, mutations in the UBR1 gene alter, disrupt or prevent [en.wikipedia.org]