Wolf-Hirschorn syndrome
Overview
Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first described in 1961 by the Americans Herbert L. Cooper and Kurt Hirschhorn, and thereafter gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine 'Humangenetik'.It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4.
Symptoms
* Growth retardation * Dysmorphic features * Cleft lip * Low set ears * Seizures
Prevention
Genetic counselling.
Diagnosis
Similar multiple congenital anomalies and mental retardation syndromes, including Proximal 4p syndrome and Seckel syndrome.
Prognosis
* Frequently results in stillbirth or death within the first year. * If patients survive beyond infancy, they have slow but constant progress in terms of development. * About one-third die within the first two years of life, usually due to a heart defect, aspiration pneumonia, other severe infection or resulting from a seizure. * Recurrence risk is negligible unless a parent is a translocation carrier.