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Johanson-Blizzard syndrome

MIM.243800 15q15-q21.1

Saturday 11 February 2006

Definition: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.

Synopsis

- short stature
- low birth weight
- failure to thrive
- situs inversus
- craniofacial anomalies

  • microcephaly
  • midline skin dimples over anterior/posterior fontanelles
  • hearing loss, sensorineural
  • cystic dilatation of cochlea and vestibulum
  • strabismus
  • cutaneolacrimal fistulae
  • lacrimal puncta aplasia
  • hypoplastic alae nasi
  • beaked nose
  • hypoplastic deciduous teeth
  • absent permanent teeth

- cardiovascular malformations

- small nipples
- absent areolae

- exocrine pancreatic insufficiency

- imperforate anus
- anteriorly placed anus

- neonatal cholestatic liver disease (18553553)

  • liver fibrosis
  • portal hypertension

- genital anomalies

- hydronephrosis
- calicectasis

- delayed bone age
- joint laxity
- fifth finger clinodactyly
- transverse palmar crease
- cafe-au-lait spots
- scalp aplasia cutis congenita
- transverse palmar crease
- blonde, sparse scalp hair
- frontal upsweep
- extension of lateral hairline onto forehead
- ’Unruly’ scalp hair
- anasarca
- edema (hands and feet)
- mental retardation (2/3 patients)
- hypotonia
- hypothyroidism (30% patients)
- diabetes mellitus
- low total serum protein
- hypocalcemia
- intestinal malabsorption

Etiology

- germline mutation in the ubiquitin-protein ligase E3 component N-recognin 1 gene (UBR1) (MIM.605981)

References

- Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Johanson-Blizzard syndrome: Report of a novel mutation and severe liver involvement. Am J Med Genet A. 2008 Jun 13. PMID: 18553553

- Hoffman WH, Lee JR, Kovacs K, Chen H, Yaghmai F. Johanson-blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. Pediatr Dev Pathol. 2007 Jan-Feb;10(1):55-60. PMID: 17378628