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WOLF-HIRSCHHORN SYNDROME (4P-)

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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
Priority 4 Families Support Group

4P-, Wolf-Hirschhorn Syndrome (WHS)



EPIDEMIOLOGY:
* incidence: rare
* age of onset: newborn (dysmorphic features)F>M
* risk factors:
~ sporadic
~ parental chromosomal abberrations, i.e. translocation

GENETIC DEFECT:
* Deletion of some of the genetic material(short arm of 4)
* deletion of band 4p16 required for full phenotypic expression * referred to as Wolf-Hirschhorn Syndrome

FACIAL DYSMORPHIC FEATURES:
* microcephaly, midline scalp defect, hemangioma of the forehead, Hemangioma of the forehead, hypertelorism, downward slantng palpebral fissures, epicanthus, strabismus, colobomata, low-set ears, preauricular dimples, broad or beaked nose, cleft ip, palate, and/or uvual, carp-like mouth, micrognathia

NEUROLOGICAL MANIFESTARTIONS:
* profound mental retardation, severe psychomotor retardation, weak cry in infancy, seizures

RENAL MANIFESTATIONS:
* hypospadias, hypoplastic Mullerian Derivatives

OTHER MANIFESTATIONS:
* low birthweight, postnatal growth retardation, underdeveloped dermal ridges and low ridge count

PROGNOSIS:
* Stillbirths, perinatal deaths and death within the first year of life are not unexpected, if servive infancy, averge lifespan unknown, seizures may be very difficult to control, recurrence negligible unless a parent is a translocation carrier


Wolf-Hirschhorn Syndrome is an extremely rare chromosome disorder caused by a partial deletion (monosomy) of the short arm ("p") of chromosome 4. Major of symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures.

Because of the wide range of deleted material, our children varies widely. 4p- (WHS) varies in walking, talking and in their daily living skills.

Their life expectancy is unknown. The oldest known living today was born in 1949.