22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Hand polydactyly

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.


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PMID (PMCID)