Syndrome, Wolf-Hirschhorn
Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears with a dimple in front of the ear; small &/or asymmetrical head; heart defects; and seizures (that tends to diminish with age). There is severe to profound developmental and mental retardation. Some patients do learn to walk with or without support and some achieve sphincter control (by day). There is usually very slow progress in development. Most (nearly 90% of the cases of the syndrome are due to de novo (newly occurring) partial deletions of the short (p) arm of chromosome 4. In the remaining 10% or so of cases, one of the parents has a balanced chromosome rearrangement involving chromosome 4p from which the child's 4p- is derived. Parents of 4p- children should, therefore, have chromosomes studies themselves. The syndrome is named for the American Kurt Hirschhorn and German U. Wolf who independently found the 4p- chromosome abnormality in the 1960s.

Medical dictionary. 2011.

Look at other dictionaries:

  • Wolf–Hirschhorn syndrome — Wolf Hirschhorn syndrome Classification and external resources ICD 10 Q93.3 ICD 9 758.3 …   Wikipedia

  • Syndrome de wolf-hirschhorn — Le syndrome de Wolf Hirschhorn est une maladie chromosomique associant : faciès caractéristique, retard de croissance intra utérin suivi d’un retard de croissance post natal, hypotonie musculaire, retard de développement avec un retard… …   Wikipédia en Français

  • Wolf-Hirschhorn syndrome (WHS) — is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is therefore also called the 4p syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral… …   Medical dictionary

  • Wolf-Hirschhorn syndrome — Wolf Hirschhorn syndrome. См. синдром Вольфа Хиршхорна. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Wolf-Hirschhorn-Syndrom — Klassifikation nach ICD 10 Q93.3 Deletion des kurzen Armes des Chromosoms 4 Wolf Hirschhorn Syndrom …   Deutsch Wikipedia

  • Wolf-Hirschhorn Syndrom — Das Wolf Hirschhorn Syndrom (auch als Wolf Syndrom oder Chromosom 4p Syndrom bekannt) ist eine seltene angeborene Erbkrankheit, die durch eine sogenannte strukturelle Chromosomenaberration am kurzen Arm des Chromosom 4 bedingt ist. Leitsymptom… …   Deutsch Wikipedia

  • Wolf-Hirschhorn syndrome — Infobox Disease Name = Wolf Hirschhorn syndrome Caption = DiseasesDB = 32279 ICD10 = ICD10|Q|93|3|q|90 ICD9 = ICD9|758.3 ICDO = OMIM = 194190 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2446 MeshID = Wolf Hirschhorn syndrome, also known as …   Wikipedia

  • Syndrome de Wolf-Hirschhorn — Le syndrome de Wolf Hirschhorn est une maladie chromosomique associant : faciès caractéristique, retard de croissance intra utérin suivi d’un retard de croissance post natal, hypotonie musculaire, retard de développement avec un retard… …   Wikipédia en Français

  • Wolf-Hirschhorn syndrome — Wolf Hirsch·horn syndrome (voolfґ hurshґhorn) [Ulrich Wolf, German physician, born 1933; Kurt Hirschhorn, American physician, born 1926] see under syndrome …   Medical dictionary

  • Wolf-Hirschhorn syndrome — a syndrome associated with partial deletion of the short arm of chromosome 4, characterized by microcephaly, ocular hypertelorism, epicanthus, cleft palate, micrognathia, low set ears simplified in form, cryptorchidism, and hypospadias …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”