Trisomy 12p

Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized 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, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.

Also known as: Duplication 12p, trisomy type 12p, 12p duplication, 12p trisomy, chromosome 12p duplication, partial trisomy 12p

0 clinical trials for this condition and its sub-types, 0 tagged with Trisomy 12p itself.