Diagnostic Guidelines

Defining the criteria to diagnose a multiple congenital anomaly syndrome takes many years, many patients and remains largely unscientific, often relying on the “gestalt” (overall impression) of a syndrome to make the final diagnosis.

Costello’s first reports in 1971 and 1977 were expanded by der Kaloustian (1991), and Martin and Jones (1991). Recent review articles characterize over 100 patients (Hennekam, 2003), and summarize neuro-logical and behavioral issues (Kawame et al., 2003; Axelrad et al., 2004, Del Rue et al., 2003), cardiac complications (Lin et al., 2002), orthopedic problems (Yassir et al., 2003), malignancies (Gripp et al, 2003), and the adult appearance (White et al., 2005).

--July 2005

Download our Diagnostic guidlines document below, we have versions in bothe English and Spanish. 

Please note that since these guidlines were written a simple genetic test can now be Carried out. Please discuss testing with your doctor.