![Sponastrime dysplasia Sponastrime dysplasia](https://upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Autosomal_recessive_-_en.svg/400px-Autosomal_recessive_-_en.svg.png)
Sponastrime dysplasia is a rare condition characterised by facial and skeletal abnormalities.
The main features of this condition are evident in skeleton and face.
Facial features:
Skeletal features:
On X ray:
Other associated conditions:
These are variably present
This condition has been associated with mutations in the Tonsoku-like, DNA repair protein (TONSL) gene. This gene is located on the long arm of chromosome 8 (8q24.3). This gene is also known as NFKBIL2.
This is not understood. It appears that the TONSL gene product is involved in genome repair.
This can be suspected when the usual facial and skeletal features are present. It is confirmed by sequencing the TONSL gene.
Short limbed dwarfism syndrome in association with immunodeficiency.
There is no specific treatment for this condition. Management is supportive.
This condition is considered to be rare with less than 100 cases reported in the literature.
This condition was first described in 1983.
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