Definition:
Wolf-Hirschhorn syndrome otherwise known as the deletion 4p and 4p- syndrome was first studied in 1961 by H. Cooper and U. Wolf (Cooper H., Hirschhhorn K.(1961). Apparent deletion of short arms of one Chromosome (4 or 5) in a child with Defects of Midline Fusion. Mammalian Chrom Nwsl.4:14) It is said to be a phenotype resulting from a deletion of chromosomal material of the short arm of the 4th chromosome.
Diagnosis:
Diagnosis is usually done through an ultrasound in utero or by appearance at birth. Genetic testing is also used to confirm the syndrome while additional tests like x-ray may also be advised to look for bone and internal malformations, renal ultrasonography may be used also to examine the kidneys as well as MRI to detect brain malfunctions may be used.
Treatment:
There is no treatment currently for the genetic disorder however, treatment focus on the symptoms as they manifest. Seizure which is one of the symptom of the syndrome may be treated with medications. Physical therapist may also help in maintaining the muscle strength and joint mobility.
Symptoms and Signs:
Symptoms includes severe to profound mental retardation, microcephaly, seizures, hypotonia and cleft lift and/or palate. Its also includes unusual facial features which includes strabismus, hypertelorism, down turned fish like mouth and small chin ear tags or pits and cranial asymmmetry.
Causes:
Wolf-Hirshhorn syndrome is said to be caused by a partial deletion of the short arm of the 4th chromosome especially in the region of WHSC1 and WHSC2 .
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