Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (POC1A)
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis is an autosomal recessive disorder caused by pathogenic variants in the gene POC1A. Symptoms are present at birth. This disorder is characterized by growth delay, disproportionate short stature, small hands and feet, facial dysmorphism, high pitched voice, and radiological changes including osteopenia and short and thick long bones. Other major clinical findings include hypoplastic nails and postpubertal hair loss. Life expectancy is expected to be normal. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.