Autosomal recessive
Caused by changes in both copies of the IFT80 gene, part of the intraflagellar transport machinery that builds and maintains cilia. It is one of the short-rib thoracic dysplasias, a group of skeletal ciliopathies.
Signs and symptoms
A small, narrow chest from short ribs, with shortened limbs and short stature. Breathing difficulty in infancy is common and can be severe. Less often there are extra fingers or toes, and some short-rib dysplasias also affect the kidneys, liver or retina later in childhood.
What a diagnosis changes
Breathing support in infancy, and monitoring of kidney, liver and eye health over time. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing for relatives can be offered.
Genes analysed
Also known as
asphyxiating thoracic dystrophy type 2; ATD2; IFT80 Jeune syndrome; Jeune syndrome caused by mutation in IFT80; short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2
