What is Wolf-Hirschshorn Syndrome?

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Wolf-Hirschhorn syndrome (WHS) is a condition that results when there is a deletion on the short arm of chromosome 4. This missing genetic material results in severe developmental delays and seizures. It is associated with variety of birth defects including microcephaly (small head size), cranial asymmetry, heart defects, curvature of the spine and cleft lip and/or palate. Prognosis depends on what birth defects are present. It is estimated that around 35% of WHS patients die within the first two years of life. Children with WHS often exhibit severe to profound cognitive and physical disabilities.   For more information about Wolf-Hirschshorn Syndrome, visit: – Wolf-Hirschshorn Syndrome OMIM – Wolf-Hirschchorn Syndrome Medscape – Wolf-Hirschshorn Syndrome […]

Congenital Heart Defects

A Gray Area

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By N.F. We were going to find out at 20 weeks…is it a boy or a girl? This is our second child and we have a beautiful little girl. We are hoping for a healthy boy, but a healthy girl would be wonderful too! We were granted neither. A boy. But not healthy. Not even close. The ultrasounds confirmed that our son had multiple anomalies. I had never heard the word and wished I never had. We spent the next two weeks racing from one doctor’s appointment to the next, just trying to get some hopeful news. We never got any answers. Just that our […]