The short arm deletion syndrome of chromosome 4 (4p- syndrome).
Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005145:Face; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome