Autosomal recessive
Caused by changes in both copies of PCYT1A, an enzyme needed to make phosphatidylcholine, a major component of cell membranes. Each parent usually carries one changed copy.
Signs and symptoms
Short stature with bowed legs and changes to the spine and growing ends of the bones are characteristic. Cone-rod dystrophy causes visual impairment.
What a diagnosis changes
Orthopaedic monitoring and treatment of leg bowing, with regular eye reviews, low-vision aids and educational support. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Genes analysed
Also known as
SMD-CRD; SMDCRD
