Noonan's syndrome

after Jacqueline Noonan - a paediatric cardiologist at the University of Iowa who described a series of 9 similar cases in 1962

Autosomal dominant inheritance (PTPN11 gene on Chr 12 often implicated)

Web neck, wide spaced nipples, weally low set ears - short and with pectus excavatum / carinatum

• Heart: pulmonary valve, HOCM, ASD
• Ptosis, low ears, small genitals (undescended tested) and mild mental retardation
• Coagulation defects (XI, XII, VIII deficiencies)

image from wikipedia