Asphyxiating thoracic dystrophy

SYD: 47

Asphyxiating thoracic dystrophy

Description: 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

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Developmental anomalies

Listed in the combination's profile :

There are no developmental anomalies for this combination.

Observed in MDB cases:

There are no developmental anomalies for this combination.
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