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Cornelia de Lange syndrome

Cornelia de Lange Syndrome aka CdLS is a rare genetic disorders that lead to severe delopmental anomalies. It is known to affect both physical and intellectual development in a child. The exact cause of the disease is yet to be diagnosed - but to the best of medical prognosis so far, it is termed to be a Genetic Disorder that most probably arises out of a faulty gene on Chromosome 3. Although a rare disorder, the occurence is equally likely in both males and females. more...

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The first ever documented case was in 1916 by Dr. W. Brachmann followed up by Dr. Cornelia de Lange, a Dutch pediatrician, in 1933 after whom the disorder has been named.

Since there are no medical tests that can verify the presence of this disorder, the only way to identified it is through physical characteristics (during the growing period) and is usally diagnosed by a genetics specialist.

Following are the features and characteristics which help in spotting this disorder:

  • Low birth weight (usually under 5 pounds)
  • Delayed growth and small stature
  • Developmental delay
  • Limb differences (sometimes missing limbs or portions of limbs)
  • Small head size (microcephaly)
  • Thin eyebrows which typically meet at midline
  • Long eyelashes
  • Short upturned nose and thin downturned lips
  • Long philtrum
  • Excessive body hair
  • Small hands and feet
  • Small widely spaced teeth
  • Low-set ears
  • Hearing impairments
  • Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia)
  • Partial joining of the second and third toes
  • Incurved 5th fingers
  • Gastroesophageal reflux
  • Seizures
  • Heart defects
  • Cleft palate
  • Feeding problems

Source: Special Child: Disorder Zone Archives

Children with this Syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be sparse - or a whole lot more than any other family member. Height wise more often than not, they're found to be lacking when compared to the rest of the family. However, none of these features are of serious consequence and in most cases do not matter to the affected person.

On the other hands - CdLS can give rise to it's own array complexities. Children with CdLs often suffer from gastrointestinal tract difficulties. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. However, symptoms may range from mild to severe.

Links

  • OMIM - Online Mendelian Inheritance in Man
  • Cornelia de Lange Syndrome Foundation, Inc
  • Genetic Alliance - Advocacy, Education & Empowerment
  • Cleft and Craniofacial Anomalies
  • Pediatric Database (PEDBASE)
  • Cornelia de Lange Syndrome Foundation, Inc. (UK)
  • Cornelia de Lange Web Ring (for personal web sites)
  • eMedicine - Cornelia De Lange Syndrome : Article by Mustafa Tekin, MD

Read more at Wikipedia.org


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Scottish patients missing out on NHS compensation; Legal aid rules
From Sunday Herald, The, 10/24/04 by Jenifer Johnston

PATIENTS in Scotland are being prevented from seeking compensation when they become victims of medical injury, with payouts totalling just a fraction of those in England and Wales.

The huge discrepancy with other parts of the UK is being blamed on more rigid legal aid rules north of the Border and a lack of specialist solicitors.

Figures show that in 2002-03, Scots won just (pounds) 9.4 million in medical negligence claims, while English patients received (pounds) 446m in compensation. In Wales, which has a population just three-fifths that of Scotland, successful claims amounted to (pounds) 43m.

Campaigners say that while some of the difference may be accounted for by a higher standard of NHS care in Scotland, or a reluctance on the part of Scots to sue, the discrepancy is too large to be explained away.

The charity Action Against Medical Accidents (AvMA), which helps patients seek redress against negligent doctors, also accused the Scottish Executive of dragging its heels over support for victims. In a report examining complaints against the NHS 18 months ago, Lord Ross ordered the Executive to examine the business case for opening a Scottish branch of AvMA. That business plan was submitted six months ago, but ministers have not yet decided whether or not to fund the group.

AvMA chief executive Peter Walsh said excessive legal aid red tape in Scotland was part of the problem. He said: "It is a disgrace that there is a lack of justice for so many Scottish patients. People who have in some instances been very badly hurt are left struggling for legal aid. If they don't get it, they have to fund a private case. There is also a dearth of specialist lawyers."

The Law Society of Scotland lists just four specialist solicitors who can take on medical negligence cases.

Walsh added: "Assuming that the standard of care is higher in Scotland, or that the population is less litigious, does not account for the huge shortfall in successful claims. Only a small percentage of people who do decide to litigate can get legal aid."

The Executive has just ditched a pledge that would have seen 20,000 more people gain access to legal aid for civil claims by 2006. The goal of a 5% increase was among those priorities downgraded by the Executive last week and is now "no longer a specific target".

Despite patient safety incidents like hospital infections and bungled operations being linked to 110 deaths a day - over 40,000 deaths a year - just 225 cases were settled with compensation in Scotland. The biggest payouts are usually for families with a child starved of oxygen at birth. Walsh said there are also many smaller claims from people left permanently disabled by treatment.

Walsh added: "Compensation is a low priority for the people that contact us. The biggest reason for legal action is the suspicion of a cover-up. It's a myth that medical negligence claims reflect society. These patients need compensation to bring their lives back to what they were before their treatment. Money will never take away pain and suffering, or the emotional impact of being injured."

The National Audit Office warned in April that the huge annual compensation bill is draining money from patient care. Ranald McDonald, legal adviser at the NHS Central Legal Office in Edinburgh, which defends negligence actions against the NHS, said there should be a review of legal aid, but claimed that the low compensation figures were an indicator of good practice in Scottish hospitals.

He added: "I appreciate that it is a significant financial burden for people to raise an action against the NHS without legal aid, and I am hopeful that will be reviewed."

Dr John Garner, of the British Medical Association in Scotland, said: "Going to court can be very expensive and take several years, and alternatives, such as mediation, would be helpful and less adversarial. But I also think there is less inclination in Scotland for patients to sue the NHS."

David McKie, of Levy & McRae solicitors, has wide experience of medical negligence cases. He said: "Legal aid is hard to secure for any kind of case and medical negligence cases are notoriously difficult to win. The case has to prove that the doctor has departed fairly dramatically from normal practice, and courts recognise that doctors make mistakes. The majority of claims are defended because the doctor's reputation is at risk, as are hospital purse strings."

A spokeswoman for the Executive said: "The AvMA business case is being considered within the health and justice departments."

The Sunday Herald revealed earlier this year that Scottish health trusts are using a private company to coach doctors for court appearances in sessions costing (pounds) 2000 each.

'The system is a shambles' Simon Dolan, 17, died of blood poisoning after a feeding tube in his stomach was wrongly refitted at Yorkhill Hospital in 2002. He had been suffering from Cornelia de Lange syndrome, a rare genetic condition.

His father Joe, 52, is fighting for compensation.

"At the fatal accident inquiry [FAI] the sheriff said the mistakes that had been made at the hospital were 'obvious'. Simon's feeding tube came out and we spent a day trying to feed him. At the hospital they used a broken cotton bud to get the tube in. We took him home and he was clearly ill. No doctor would come out because he had been seen at the hospital. He died after two days at home.

"It was nearly impossible to get legal aid, despite the FAI. My solicitor has been waiting for four months for replies to his letters. The whole system is a shambles. The doctors have closed ranks completely.

"The only apology I've had was sent to my solicitor, not me. Now I have to fight tooth and nail for compensation and a proper apology."

Copyright 2004 SMG Sunday Newspapers Ltd.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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