Desmosterolosis is an autosomal recessive disorder caused by pathogenic variants in the gene DHCR24. The condition is characterized by multiple congenital anomalies and increased levels of the cholesterol precursor desmosterol in plasma and tissues. The onset of this condition is in childhood. Children with this disorder typically have delayed speech and motor skills, difficulty with ambulation, and intellectual disability. Muscle spasticity, arthrogryposis, short stature, abnormal head size, cleft palate, nystagmus, strabismus, heart defects, ambiguous genitalia, and seizures are other common clinical features. Life expectancy may be reduced depending on the severity of symptoms. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.