What is Cockayne Syndrom

What are the Characteristic Features of CS?

CS Development over the years (pictures)

What are the Chances of Having Another Child with CS?

Cockayne Syndrome (CS) is a rare form of dwarfism. It is genetic and recessively inherited. CS type I or classic CS is the most common form in which the first year of life is basically normal with the onset of symptoms in the second year of life. With CS type II or early-onset CS, the symptoms are displayed within the first year. A mild form of CS has been identified in which children have only a few characteristics.

What are the Characteristic Features of CS?

The following is a list of the most common characteristics noted in reported cases of CS. No one child will necessarily have all the features listed.

· Normal first year with onset of symptoms in the second year

· Dwarfism

· Microcephaly (small head)

· Neurodevelopmental delay (progressive)

· Mental deficiency (progressive)

· Unsteady gait

· Sunburns easily

· Retinopathy and/or cataracts (progressive)

· Hearing loss (progressive)

· Dental caries

·         Typical facial appearance:
    Pinched facies
    Sunken eyes
    Beaked nose
    Prognathism (projecting jaw)

· Loss of subcutaneous fat

· Premature aging

· Shortened lifespan

CS-Development over the Years

Pictures from Baptiste provided by his father Eric Bixel, France.

Webside: http://cockayne.free.fr


3 Years old	3 Years	7 Years

8 Years	9 Years

How is CS Inherited?

CS is from a recessive gene, so both parents must be carriers to have a child with CS.

What are the Chances of Having Another Child with CS?

Once a couple is a known carrier, by having a child with CS, they have a 1 in 4 or 25% chance of having another child with CS.

Where does the name come from?

EDWARD ALFRED COCKAYNE (1880-1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children.

English physician, born 1880, Sheffield¸ died 1956.

Biography

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.

Source: http://www.whonamedit.com/