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:
4p Deletion Syndrome; 4p- Syndrome; Chromosome 4p Deletion Syndrome; Chromosome 4p Monosomy; Chromosome 4p Syndrome; Del(4p) Syndrome; Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation; Partial Monosomy 4p; Pitt Syndrome; Pitt-Rogers-Danks Syndrome; Wolf Syndrome; Wolf-Hirchhorn Syndrome; 4p Syndrome, Chromosome; 4p Syndromes, Chromosome; Chromosome 4p Syndromes; Pitt Rogers Danks Syndrome; Pitt Syndromes; Syndrome, Chromosome 4p; Syndrome, Pitt; Syndrome, Pitt-Rogers-Danks; Syndrome, Wolf; Syndrome, Wolf-Hirchhorn; Syndrome, Wolf-Hirschhorn; Syndromes, Chromosome 4p; Syndromes, Pitt; Wolf Hirchhorn Syndrome; Wolf Hirschhorn Syndrome
Networked: 137 relevant articles (1 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Wolf-Hirschhorn Syndrome
2. Huntington Disease (Huntington's Disease)
3. Chromosome Aberrations (Chromosome Abnormalities)
4. Infections
5. Neuroinflammatory Diseases


1. Ura, Kiyoe: 4 articles (09/2015 - 07/2009)
2. Nimura, Keisuke: 4 articles (01/2014 - 07/2009)
3. Hamamoto, Ryuji: 3 articles (05/2019 - 10/2011)
4. Kaneda, Yasufumi: 3 articles (01/2014 - 07/2009)
5. Nowikovsky, Karin: 2 articles (01/2022 - 07/2004)
6. Carey, John C: 2 articles (01/2018 - 10/2008)
7. Ho, Karen S: 2 articles (01/2018 - 02/2017)
8. Wassman, E Robert: 2 articles (01/2018 - 02/2017)
9. Zollino, Marcella: 2 articles (01/2018 - 12/2007)
10. Li, Lin: 2 articles (03/2016 - 02/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Wolf-Hirschhorn Syndrome:
1. Anticonvulsants (Antiepileptic Drugs)IBA
2. DNA (Deoxyribonucleic Acid)IBA
3. Chromosome 4 short arm deletionIBA
4. Membrane Proteins (Integral Membrane Proteins)IBA
5. Chromosome 1p36 Deletion SyndromeIBA
6. DNA ProbesIBA
7. Proteins (Proteins, Gene)FDA Link
8. Histone MethyltransferasesIBA
9. Histones (Histone)IBA
10. Lysine (L-Lysine)FDA Link

Therapies and Procedures

1. Ligation
2. Gastrostomy
3. General Anesthesia
4. Anesthesia
5. Contraindications