Wolf-Hirschhorn syndrome

[woolf´hirsh´horn]

a syndrome associated with partial deletion of the short arm of chromosome 4, characterized by an undersized head, increased distance between the eyes, epicanthus, cleft palate, a small receding mandible, low-set ears that are simplified in form, undescended testes, and hypospadias.

Facial view of a 3-year-old child with the Wolf-Hirschhorn syndrome. From Mueller and Young, 2001.

An autosomal dominant [MIM 194190] chromosome deletion complex characterised by low birth weight, microcephaly, ‘Greek helmet’ facies—micrognathia, hypertelorism, epicanthus, beaked nose, redundant lateral nasal folds, cleft palate—inguinal hernia, cryptorchism, hypospadias and death before age 3

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References in periodicals archive

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. Nature 2009;460:287-91.

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. Am J Med Genet A 2014;164A:597-609.

Letm1, the mitochondrial Ca [sup]2+ /H [sup]+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome. Proc Natl Acad Sci U S A 2013;110:28.

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: Experience with 87 patients.

Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by MLPA and aCGH in a fetus from a family with Wolf-Hirschhorn syndrome. Taiwan J Obstet Gynecol 2016;55.

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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