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Pitt-Rogers-Danks Syndrome


History/Background | Family Stories | Contact Us | GLOSSARY OF TERMS | WOLF-HIRSCHHORN SYNDROME (4P-) | CHROMOSOME 4 RING | CHROMOSOME 4, PARTIAL TRISOMY DISTAL 4q | Chromosome 4, Monosomy 4q | Chromosome 4, Trisomy 4p | Pitt-Rogers-Danks Syndrome | In Memory of our Children
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Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

Wolf-Hirschhorn syndrome (WHS), a multiple congenital malformation syndrome, and Pitt-Rogers-Danks syndrome, are a rare condition but with similar anomalies, it was previously thought to be clinically a distinct conditions. WHS has been a long associated with deletions in the 4p16.3.

Pitt-Rogers-Danks Syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre-and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first description in 1984, only 7 cases have been reported. We report the identification of a 4p microdeletion in 2 new patients, who were previously diagnosed with PRDS, as well as the sibs in Pitt et al. [1984]. PRDS can no longer be considered autosomal recessive. ALthough our cases are attributable to a microdeletion in 4p16, it is uncertain if the critical region involves a single locue or multiple loci or to what extent this region overlaps with the critical region for Wolf-Hirschhorn Syndrome.

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