Johanson-Blizzard syndrome

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Johanson-Blizzard syndrome

(yō-hahn'sŏn bliz'ard), [MIM*243800]
a clinical syndrome manifested by pancreatic insufficiency, scalp defects, aplasia of the alae nasi, deafness, low birthweight, microcephaly, psychomotor delay, hypothyroidism, dwarfism, and missing permanent teeth.

Johanson-Blizzard syndrome

An autosomal recessive disorder (OMIM:243800) characterised by poor growth, mental retardation and dysmorphic features (e.g., aplasia or hypoplasia of nasal alae), abnormal hair patterns or scalp defects, and oligodontia. It is variably accompanied by hypothyroidism, sensorineural hearing loss, imperforate anus and pancreatic exocrine insufficiency.

Molecular pathology
Defects of UBR1, which encodes an E3 ubiquitin-protein ligase involved in protein degradation, cause Johanson-Blizzard syndrome.
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Johanson-Blizzard Syndrome (JBS) first described by Johanson and Blizzard in 1971, exhibits autosomal recessive inheritance and is characterized by mutation in the UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1) gene on the long arm of Chromosome 15.1 Its incidence is approximately 1 in 250,000.1,2 It is commonly seen in families with consanguineous marriages and no gender difference has been observed.3
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