Professionals

PLAAT3-related lipodystrophy syndrome or FPLD9, caused by biallelic loss-of-function variants in PLAAT3, is a rare multi-system disorder associated with various degrees of lipoatrophy with metabolic complications and neurological features including intellectual disability and demyelinating peripheral neuropathy. A subset of patients presents with facial dysmorphism and skeletal abnormalities.

To date, only 7 patients born to consanguineous parents, have been reported highlighting the rarity of this disorder. The disorder is inherited in an autosomal recessive manner. The carrier frequency of pathogenic PLAAT3 variants is currently unknown.