MeSH Browser

MeSH Heading: Wolf-Hirschhorn Syndrome
Tree Number(s): C16.131.077.944; C16.131.260.985; C16.320.180.985
Unique ID: D054877
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D054877
Scope Note: 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.
Entry Term(s): 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
Previous Indexing: Abnormalities, Multiple (1970-2007); Chromosome Deletion (1978-2007)
Public MeSH Note: 2008
History Note: 2008
Date Established: 2008/01/01
Date of Entry: 2007/07/09
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Abnormalities, Multiple [C16.131.077]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Chromosome Disorders [C16.131.260]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Chromosome Disorders [C16.320.180]

Wolf-Hirschhorn Syndrome Preferred

Concept UI: M0508574
Scope Note: 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.
Terms: Wolf-Hirschhorn Syndrome Preferred Term
Term UI T708880
Date10/31/2007
LexicalTag EPO
ThesaurusID; Chromosome 4p Syndrome
Term UI T839376
Date03/28/2013
LexicalTag NON
ThesaurusID ORD (2010); Wolf Syndrome
Term UI T839375
Date03/28/2013
LexicalTag EPO
ThesaurusID ORD (2010); Wolf-Hirchhorn Syndrome
Term UI T695184
Date04/09/2007
LexicalTag EPO
ThesaurusID NLM (2008); 4p Deletion Syndrome
Term UI T842706
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); 4p- Syndrome
Term UI T842707
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Chromosome 4p Deletion Syndrome
Term UI T842708
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Chromosome 4p Monosomy
Term UI T842709
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Del(4p) Syndrome
Term UI T842710
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Partial Monosomy 4p
Term UI T842711
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Pitt-Rogers-Danks Syndrome Narrower

Wolf-Hirschhorn Syndrome MeSH Descriptor Data 2025