Cornelia de Lange syndrome

Cornelia de Lange Syndrome aka CdLS is a rare genetic disorder that lead to severe developmental anomalies. It is known to affect both the physical and intellectual development of a child.

Causes

CdLS is a genetic disorder that most probably arises out of a fault in the gene NIPBL on Chromosome 5. Although a relatively rare disorder, the occurrence is equally likely in both males and females.

There are two ways of having the syndrome. One can inherit the defected gene from either parent. Otherwise it is a completely random chance.

History

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.

Diagnosis

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 usually diagnosed by a genetics specialist.

CdLS is most likely underdiagnosed and ofter misdiagnosed as autism.

Features and characteristics

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 (synophrys)
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. They are often shorter than 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 its own array of 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.

Cornelia de Lange syndrome may also include a number of behavioral characteristics such as aggressiveness, violence, self-mutilation, a lack of interpersonal connectiveness, self-stimulation, repetative motions, and rigidity of behavior.

Treatment

Often, an interdisciplinary approach to therapy and treatment of any medical issues that arise is recommended. A team for promotion of the child's well being often includes: speech, occupational and physical therapists, teachers, physicians, and most importantly the parent(s).

External links

^*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)