Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1)
OMIM number: 616901
Comments closing date: 10/04/2026
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) is a rare hereditary (genetic) condition which primarily causes these features from infancy. It is caused by an alteration (also called “pathogenic variant”) in both copies of gene called DPH1. The DPH1 gene is thought to have several important roles in cells throughout the body, including in early brain development. Individuals with DEDSSH1 are typically found to have short stature, characteristic facial features, sparse hair and global developmental delay, meaning they learn skills such as sitting, walking and talking later than expected. The condition can cause differences to brain development and mild-severe learning difficulties, and heart, kidney, male genitalia and skeletal anomalies. People born with this condition can have variable features, but unfortunately, all are expected to be significantly impacted by the condition from birth. There is no cure for this condition—each symptom is treated on its merits, but the condition can still significantly affect the quality of life and life expectancy.
