Developmental delay with short stature, dysmorphic features and sparse hair (DEDSSH) is caused by two disease causing changes on DPH1 gene on chromosome 17. The majority of affected individuals have consanguineous parents. Their parents, usually, each would have one disease causing change.
DEDSSH affects boys and girls equally. The severity of condition is variable and it is unrelated to the gender of affected individual. Some patients with lethal presentation may pass away at early ages.
DPH1