Catalog

12p duplication

No MMS code

Link to WHO Definition

12p duplication – http://id.who.int/icd/entity/105981078

Non-distal trisomy 12p is an extremely rare chromosomal disorder characterised by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, intellectual deficit and psychomotor retardation, generalised hypotonia, abnormally short wide hands and/or other abnormalities.