Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Definition
Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
Also known as soft syndrome — per MONDO