A partir de cette page vous pouvez :
Retourner au premier écran avec les dernières notices... |
Descripteurs (mots clés)
Thésaurus Mesh
> S > Syndrome de Wolf-Hirschhorn
Syndrome de Wolf-Hirschhorn
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.
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.
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.
Synonyme(s)
Délétion distale 4p; Délétion du bras court du chromosome 4; Délétion terminale 4p; Délétion télomérique 4p; Monosomie distale 4p; Syndrome de Pitt-Rogers-DanksRelation(s)
- voir aussi au terme générique : [Descripteurs (mots clés)] Malformations multiples
- voir aussi au terme générique : [Descripteurs (mots clés)] Maladies chromosomiques
Descripteur (mot clé) vide
Etendre la recherche sur niveau(x) vers le bas
Etendre la recherche sur niveau(x) vers le bas