Developmental delay with short stature, dysmorphic features and sparse hair (DEDSSH) is a genetic disorder resulting from two disease causing changes (each on one copy) in the sequence of DPH1 gene, located on two copies of chromosome 17.
Affected individuals may present to medical attention for intellectual disability / developmental delay, short stature, abnormal face, low muscle tone and hand /foot abnormalities. They may have sparse hair and eyebrow, abnormal nails and teeth problem. They are often found to have abnormal head shape/ . Most of affected individuals, if undergo brain imaging, may find brain structural problems. The severity and presentation is variable. Most reported individuals are children and some of them had short lifespan due to severe presentation of the disorder.
This is an ultra-rare condition. Up till now, less than 30 individuals were reported worldwide.
DPH1