Was ist das Cockayne Syndrom?

Where does the name come from?

Was ist Cockayne Syndrom?

Cockayne Syndrome (CS) ist eine seltene Form von Zwergwüchsigkeit. Es ist genetisch und rezessiv vererbbar.  CS Typ I oder auch klassisches CS ist die häufigste Form, wobei das erste Lebensjahr normal verläuft und die typischen Eigenschaften erst im Verlauf des zweiten Lebensjahres auftreten. Beim CS Typ II oder auch frühes CS treten die typischen Merkmale bereits im ersten Lebensjahr auf. Eine mildere Form ist ebenfalls bekannt, wobei Kinder nur einige wenige der Merkmale entwickeln.

Welches sind die typischen Eigenschaften?

Hier ist eine Liste der am häufigsten vorkommenden Eigenschaften, die im Zusammenhang mit CS auftreten können. Ein Kind muß nicht unbedingt alle diese Merkmale aufweisen.

• Normales erstes Jahr mit Symptom-Ausprägung beginnend im 2. Lebensjahr.
• Zwergwűchsigkeit
• Microcephalus (kleiner Kopf)
• Neurologische Entwicklungs-Verzögerung (progressiv)
• Geistige Behinderung (progressiv)
• Unsicherer Gang
• bekommt schnell einen Sonnenbrand
• Netzhauterkrankung und/oder Eintrűbung der Augenlinse, Katarakte (progressiv)
• Gehörverlust (progressiv)
• Zahn-Karies
• Typischer Gesichtsausdruck:
      schmales Gesicht   
      zurűckliegende Augen
      Schnabelnase
      vorspringender Kiefer
• mangelndes Unterhaut-Fettgewebe
• vorzeitiges Altern 
• verkűrzte Lebenserwartung

Wie wird es vererbt?

CS stammt von rezessiven Genen, d.h. beide Elternteile műssen dieses Gen haben um ein Kind mit CS bekommen zu können.

Wie groß ist die Chance ein weiteres Kind mit CS zu haben?

Falls beide Partner als Träger des CS-auslösenden Genes sind, ist die Chance ein CS-Kind zu bekommen 1in 4 oder 25%.

Edward Alfred Cockayne was educated at Charterhouse School and Balliol College, University of Oxford, where he excelled in the natural sciences. He was an intern at the St. Bartholomew’s Hospital, London, and qualified in medicine in 1907. Cockayne became a member of the Royal College of Physicians in 1909, fellow in 1916, and in 1912 received his doctorate from the University of Oxford.

During World War I Cockayne served in the Royal Navy and was at Archangel during the Russian revolution. After demobilisation in 1919 he was outpatient physician at the Middlesex Hospital and the Hospital for Sick Children, Great Ormond Street, becoming full physician at these hospitals in 1924 and 1934, respectively. He remained at the Hospital for Sick Children for the rest of his career.

Cockayne combined paediatrics with general practice and was particularly interested in endocrinology and rare, genetic children’s diseases - the latter was to become a lifelong interest in hereditary diseases, and in 1933 he published his monograph Inherited Abnormalities of the Skin and its Appendages. This was the first book to be exclusively concerned with the genodermatoses and it contained numerous pedigrees which had been culled from the literature. Cockayne’s stated purpose in writing the book was to draw the attention of dermatologists and geneticists to this potentially fruitful field of research.

Cockayne was a bird-like, slightly built man with an unpredictable temper. He was widely acknowledged as a superb diagnostician but had little interest in treatment or undergraduate teaching. was a bachelor and it is said that he had many acquaintances and admirers but no close friends.

Cockayne's great interest besides his medical work was in entomology. He built up a massive collection of butterflies and moths and in 1943 became president of the Royal Society of Entomology. After his retirement in 1947 he transferred his collection of insects from his flat to the Walter Rothschild Zoological Museum at Tring, Hertfordshire, 33 miles from London, where he became assistant curator. His name is perpetuated in the Cockayne Suite at the Royal Society of Medicine. For his service to entomology he was awarded the Order of the British Empire.


Bibliography

• Inherited Abnormalities of the Skin and its Appendages. 1933.
  This was the first book to be exclusively concerned with the genodermatoses, containing an extensive collation of pedigrees from the literature.
  
  This was the first book to be exclusively concerned with the genodermatoses, containing an extensive collation of pedigrees from the literature.
  
  
• V. A. McKusick:
  Genetics and dermatology, or if I were to rewrite Cockayne's Inherited Abnormalities of the Skin.
  Journal of Investigative Dermatology, Baltimore, 1973, 60: 343-359.
  This work also provides biographical information on Cockayne, including his important contributions to entomology.