Sponastrime dysplasia is a rare condition characterised by facial and skeletal abnormalities.

[3] Facial features: Skeletal features: On X ray: Other associated conditions: These are variably present[4] This condition has been associated with mutations in the Tonsoku-like, DNA repair protein (TONSL) gene.

It appears that the TONSL gene product is involved in genome repair.

[citation needed] Short limbed dwarfism syndrome in association with immunodeficiency.

[citation needed] This condition is considered to be rare with less than 100 cases reported in the literature.