Wolf-Hirschhorn Syndrome

A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.

Also Known As:

Networked: 84 relevant articles (0 outcomes, 6 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Wolf-Hirschhorn Syndrome
2.	Huntington Disease (Huntington's Disease)
3.	Chromosome Aberrations (Chromosome Abnormalities)
4.	Sotos Syndrome
5.	Status Epilepticus (Complex Partial Status Epilepticus)

Experts

1.	Ura, Kiyoe: 4 articles (09/2015 - 07/2009)
2.	Nimura, Keisuke: 4 articles (01/2014 - 07/2009)
3.	Kaneda, Yasufumi: 3 articles (01/2014 - 07/2009)
4.	Villar, Ana V: 2 articles (08/2013 - 07/2011)
5.	Abramowicz, Iga: 2 articles (08/2013 - 05/2012)
6.	Llano, Miguel: 2 articles (08/2013 - 07/2011)
7.	Colnaghi, Rita: 2 articles (08/2013 - 05/2012)
8.	Cobo, Manuel: 2 articles (08/2013 - 07/2011)
9.	O'Driscoll, Mark: 2 articles (08/2013 - 05/2012)
10.	Hurlé, María A: 2 articles (08/2013 - 07/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Wolf-Hirschhorn Syndrome:

1.	DNA (Deoxyribonucleic Acid)IBA 03/01/1991 - "We report molecular studies in 2 patients with Wolf-Hirschhorn syndrome, probing genomic DNA from the patients and their parents with markers that have been mapped to 4p16.3. One of the patients was heterozygous for alleles detected by probe F5.53, which maps to the centromeric end of the D4S10 locus, but hemizygous for loci located more distally. " 08/01/2001 - "We have identified and characterized a gene (60% on protein level) and a pseudogene (93% on DNA level) that show high similarity to the Wolf-Hirschhorn syndrome candidate gene-1 (WHSC1). " 09/01/1991 - "To facilitate the procurement of cloned DNA from this candidate region, we have augmented the existing regional mapping panel of somatic cell hybrids with hybrid HHW1071 containing a t(4p16;12) chromosome from a patient with Wolf-Hirschhorn syndrome. " 09/01/1986 - "Southern blot analysis of DNA from patients with Wolf-Hirschhorn syndrome (WHS) has suggested that the linked marker maps within the terminal 4p16 band. " 04/01/1991 - "DNA samples were obtained from children with Wolf-Hirschhorn syndrome and their parents to assist with gene mapping studies of 4p16.3 (the region known to contain the Huntington's disease gene). "
2.	Chromosome 4 short arm deletionIBA 11/01/1993 - "We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. " 11/01/2007 - "Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome." 10/01/1996 - "Deletion 4p is associated with Wolf-Hirschhorn syndrome (WHS). " 11/01/1993 - "Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome." 09/01/2010 - "Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome."
3.	DNA ProbesIBA 10/17/1997 - "FISH studies with DNA probes specific for Wolf-Hirschhorn syndrome (WHS) and telomere of 4p indicated that these 2 regions were intact and that the insertion of Y DNA had occurred proximal to the WHS region. "
4.	1p36 deletion syndrome Chromosome 1IBA 01/01/2006 - "Additionally, these techniques may improve genotype-phenotype studies of patients with microscopically visible chromosome aberrations, such as Wolf-Hirschhorn syndrome, 18q deletion syndrome and 1p36 deletion syndrome. "
5.	histone methyltransferaseIBA 02/01/2013 - "The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis." 08/28/2013 - "We investigated the role of the histone methyltransferase Wolf-Hirschhorn syndrome candidate 1 (WHSC1) (NSD2/MMSET) in H3.3 deposition into interferon (IFN) response genes. " 07/09/2009 - "Here we show that the H3K36me3-specific histone methyltransferase (HMTase) Wolf-Hirschhorn syndrome candidate 1 (WHSC1, also known as NSD2 or MMSET) functions in transcriptional regulation together with developmental transcription factors whose defects overlap with the human disease Wolf-Hirschhorn syndrome (WHS). " 03/13/2015 - "Here, we investigate how the overdose of retinoic acid (RA), which can induce cleft palate in mice and humans, regulates histone methyltransferase, Wolf-Hirschhorn syndrome candidate 1 (WHSC1) during palatal development in mice. " 11/01/2013 - "Induction of lung cancer progression by TADC-derived resistin is associated with increased expression of Wolf-Hirschhorn syndrome candidate 1 (WHSC1), a histone methyltransferase. "
6.	Proteins (Proteins, Gene)IBA 07/16/2004 - "The yeast open reading frames YOL027 and YPR125 and their orthologs in various eukaryotes encode proteins with a single predicted trans-membrane domain ranging in molecular mass from 45 to 85 kDa. Hemizygous deletion of their human homolog LETM1 is likely to contribute to the Wolf-Hirschhorn syndrome phenotype. " 05/04/2000 - "Upon characterization of WHSC1, a gene mapping to the Wolf-Hirschhorn syndrome critical region and at its C-terminus similar to the Drosophila ASH1/trithorax group proteins, we identified a novel protein domain designated PWWP domain. " 12/01/2011 - "NSD1 and NSD2 were isolated as genes linked to developmental diseases, such as Sotos syndrome and Wolf-Hirschhorn syndrome, respectively, implying versatile aspects of the NSD proteins. " 02/01/2008 - "Wolf-Hirschhorn syndrome candidate 1 (WHSC1), along with 103 other proteins, was found only in the GBM proteomes. "
7.	Histones (Histone)IBA 01/01/2014 - "Whsc1 (Wolf-Hirschhorn Syndrome candidate 1), a histone H3 lysine 36 (H3K36) trimethyltransferase, is one of the major genes associated with Wolf-Hirshhorn syndrome, which is characterized by skeletal abnormalities. " 07/09/2009 - "A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome." 12/01/2010 - "Haploinsufficiency for some histone methyltransferases, one of the principal modifiers of the histone modification network, are associated with particular congenital diseases, including Sotos syndrome, Wolf-Hirschhorn syndrome, and 9q syndrome. " 09/01/2015 - "WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). "
8.	Congenital diaphragmatic herniaIBA 11/01/2010 - "Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome." 03/01/2006 - "Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia." 06/01/2004 - "Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia." 01/01/2006 - "Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR."
9.	Lysine (L-Lysine)FDA Link 01/01/2014 - "Whsc1 (Wolf-Hirschhorn Syndrome candidate 1), a histone H3 lysine 36 (H3K36) trimethyltransferase, is one of the major genes associated with Wolf-Hirshhorn syndrome, which is characterized by skeletal abnormalities. " 07/09/2009 - "A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome." 09/01/2015 - "WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). "
10.	Duplication 4p SyndromeIBA 06/01/2005 - "Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype." 07/01/2003 - "An 8-year-old girl with a combination of clinical manifestations of partial duplication 4p and the Wolf-Hirschhorn syndrome was studied. " 07/01/2003 - "Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome." 08/30/2004 - "Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation."

Therapies and Procedures

1.	Tympanoplasty 02/01/2011 - "We present here the case of a 33-month-old male patient with Wolf-Hirschhorn syndrome (WHS) and who underwent tympanoplasty and myringotomy. "
2.	Surgical Portasystemic Shunt (Portosystemic Shunt) 09/01/2010 - "Congenital portosystemic shunt in a child with Wolf-Hirschhorn syndrome."
3.	Music Therapy 10/01/2014 - "Individuals with Wolf-Hirschhorn syndrome may have a strong affinity for music and may benefit from music therapy. "
4.	Ligation 06/01/2012 - "[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization]."
5.	General Anesthesia 12/01/2013 - "[General anesthesia for a boy with Wolf-Hirschhorn syndrome]."