Descriptor English: | Wolf-Hirschhorn Syndrome | ||||
Descriptor Spanish: |
Síndrome de Wolf-Hirschhorn
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Descriptor Portuguese: | Síndrome de Wolf-Hirschhorn | ||||
Descriptor French: | Syndrome de Wolf-Hirschhorn | ||||
Entry term(s): |
4p Deletion Syndrome 4p Syndrome, Chromosome 4p Syndromes, Chromosome 4p- Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Chromosome 4p Syndrome Chromosome 4p Syndromes Del(4p) Syndrome Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation Partial Monosomy 4p Pitt Rogers Danks Syndrome Pitt Syndrome Pitt Syndromes Pitt-Rogers-Danks Syndrome 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 Wolf Syndrome Wolf-Hirchhorn Syndrome |
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Tree number(s): |
C16.131.077.944 C16.131.260.985 C16.320.180.985 |
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RDF Unique Identifier: | https://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. |
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Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Previous Indexing: |
Abnormalities, Multiple (1970-2007) Chromosome Deletion (1978-2007) |
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Public MeSH Note: | 2008 |
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History Note: | 2008 |
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DeCS ID: | 52626 | ||||
Unique ID: | D054877 | ||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
Date Established: | 2008/01/01 | ||||
Date of Entry: | 2007/07/09 | ||||
Revision Date: | 2013/07/08 |
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Wolf-Hirschhorn Syndrome
- Preferred
Pitt-Rogers-Danks Syndrome
- Narrower
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. |
Preferred term | Wolf-Hirschhorn Syndrome |
Entry term(s) |
4p Deletion Syndrome 4p Syndrome, Chromosome 4p Syndromes, Chromosome 4p- Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Chromosome 4p Syndrome Chromosome 4p Syndromes Del(4p) Syndrome Partial Monosomy 4p Syndrome, Chromosome 4p Syndrome, Wolf Syndrome, Wolf-Hirchhorn Syndrome, Wolf-Hirschhorn Syndromes, Chromosome 4p Wolf Hirchhorn Syndrome Wolf Hirschhorn Syndrome Wolf Syndrome Wolf-Hirchhorn Syndrome |
Concept UI |
M0508575 |
Scope note | A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16. |
Preferred term | Pitt-Rogers-Danks Syndrome |
Entry term(s) |
Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation Pitt Rogers Danks Syndrome Pitt Syndrome Pitt Syndromes Syndrome, Pitt Syndrome, Pitt-Rogers-Danks Syndromes, Pitt |
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