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...

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