" /> Johanson-blizzard syndrome - CISMeF





Preferred Label : Johanson-blizzard syndrome;

Symbol : JBS;

CISMeF acronym : JBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness;

Description : Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin-protein ligase E3 component N-recognin 1 gene (UBR1, 605981.0001);

Laboratory abnormalities : Low total serum protein; Hypocalcemia;

Prefixed ID : #243800;

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29/07/2025


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