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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
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