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Asphyxiating thoracic dystrophy

DA: 685




Developmental anomaly information

Definition: Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. Additional skeletal abnormalities can include unusually shaped pelvic bones and extra fingers and/or toes (polydactyly). Infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs.Mutations in the IFT80 gene have been found in several families with asphyxiating thoracic dystrophy. The IFT80 gene provides instructions for making a protein that is found in cell structures of cilia


Synonyms:

  • Jeune syndrome


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Topology: (empty)

System: (empty)

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Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Last modified: 2008-09-16 20:37:12 by

Created: 2008-09-10 15:52:32 by farideh



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