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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:
Pitt-Rogers-Danks Syndrome; Wolf-Hirchhorn Syndrome; Pitt Rogers Danks Syndrome; Syndrome, Pitt-Rogers-Danks; Syndrome, Wolf-Hirchhorn; Syndrome, Wolf-Hirschhorn; Wolf Hirchhorn Syndrome; Wolf Hirschhorn Syndrome
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
2. Chromosome 4 short arm deletionIBA
3. DNA ProbesIBA
4. 1p36 deletion syndrome Chromosome 1IBA
5. histone methyltransferaseIBA
6. Proteins (Proteins, Gene)IBA
7. Histones (Histone)IBA
8. Congenital diaphragmatic herniaIBA
9. Lysine (L-Lysine)FDA Link
10. Duplication 4p SyndromeIBA

Therapies and Procedures

1. Tympanoplasty
2. Surgical Portasystemic Shunt (Portosystemic Shunt)
3. Music Therapy
4. Ligation
5. General Anesthesia