Disease Information for Chromosome 4p-syndrome

Wolf Hirschhorn Syndrome; 4p- Syndrome, Partial; Chromosome 4, Partial Deletion 4p; Chromosome 4, Partial Monosomy 4p;

Partial Deletion of the Short Arm of Chromosome 4; WHCR;

WHS; Wolf Syndrome; Wolf-Hirschhorn Chromosome Region (WHCR)

Disorder;Wolf-Hirschorn syndrome (4p16.3)

Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder caused by a partial deletion (monosomy) of the short arm ("p") of chromosome 4; Major 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 the amount of genetic material deleted varies, the symptoms of this syndrome vary from case to case. [NORD 2005]--------------------------------

chromosome 4p deletion syndrome;Partial deletion of the short arm of chromosome 4 with severe psychomotor deficiency and abnormalities of the craniofacial structures, heart, kidneys, and other organs; The most common defects include asymmetric skull, microcephaly, high forehead, beaked nose, hypertelorism, epicanthal folds, and prominent glabella; The phenotype of proximal interstitial deletion (del4p15) differs from that in the Wolf-Hirschhorn syndrome and is characterized by distinct facies, multiple minor congenital anomalies, psychomotor retardation and normal growth; Deletion 4p15-16 is expressed in a different phenotype which includes long face, midface hypoplasia, upslanted palpebral fissures, epicanthal folds, large beaked nose, highly arched palate, thick lower lip, micrognathia, broad and short neck, broad hands and feet, tall and thin habitus, delayed growth and mental development, and hypotonia;

Synonyms:Wolf syndrome; Wolf-Hirschhorn syndrome (WHS);

4p- syndrome; 4p deletion syndrome; del(4p) syndrome.

Listed in OMIM in the autosomal dominant catalog, but most cases are believed to be sporadic; Deletion 4p16 is believed to be sufficient for the full expression of this syndrome; Some cases show a de novo terminal deletion 4p15, 4p15.3-pter, 4p16.1-pter, and p416.3;

[JABLONSKI MCA/MR website 2005]-----------------------------------------------

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