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DeCS
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Descritor Inglês:
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Wolf-Hirschhorn Syndrome
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Descritor Espanhol:
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síndrome de Wolf-Hirschhorn
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Descritor Português:
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Síndrome de Wolf-Hirschhorn
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Sinônimos Inglês:
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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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Categoria:
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C16.131.077.944
C16.131.260.985
C16.320.180.985
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Definição Inglês:
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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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Nota Histórica Inglês:
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2008
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Qualificadores Permitidos Inglês:
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Número do Registro:
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52626
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Identificador Único:
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D054877
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Ocorrência na BVS:
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DeCS
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