Asphyxiating thoracic dystrophy

Definition:

Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and eyes. Patients have proximal cervical stenosis and severe respiratory insufficiency due to the skeletal abnormalities such as narrow thorax and short ribs.

References:

[1]. Cecilie Bredrup, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. [Content Brief]

[2]. Erica E Davis, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. [Content Brief]

[3]. Kim M Keppler-Noreuil, et al. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011 May;155A(5):1021-32. [Content Brief]

[4]. Nathalie Dagoneau, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. [Content Brief]

[5]. Philip L Beales, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. [Content Brief]

[6]. Robert M Campbell Jr, et al. Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1815-27. [Content Brief]

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