Preferred Label : Tetrasomy 12p mosaicism;
ICD-11 definition : Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual
deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p characterized
by facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.;
Origin ID : 1495552441;
Automatic exact mappings (from CISMeF team)
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual
deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p characterized
by facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.
