Catalog

Tetrasomy 12p mosaicism

No MMS code

Link to WHO Definition

Tetrasomy 12p mosaicism – http://id.who.int/icd/entity/1495552441

Tetrasomy 12p mosaicism also known as Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p characterised by facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.