Cornelia de Lange syndrome
From Wikipedia, the free encyclopedia
| ICD-10 | Q87.1 (ILDS Q87.170) | |
|---|---|---|
| ICD-9 | 759.89 | |
| OMIM | 122470 | |
| DiseasesDB | 29651 | |
| eMedicine | ped/482 | |
| MeSH | C10.597.606.643.210 | |
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.
Contents |
[edit] Causes
CdLS is a genetic disorder that most probably arises out of a mutation in the gene NIPBL on Chromosome 5. [1]. Although a relatively rare disorder, the occurrence is equally likely in both males and females.
There are two ways of acquiring the syndrome. One can inherit the defected gene from either parent. That is, it is an autosomal dominant. However, since the disease would likely express itself in the parent, most cases appear to be due to spontaneous mutations.
1) Krantz ID, et al, Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004 Jun;36(6):631-5.
[edit] 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.
[edit] 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 thought to be underdiagnosed and frequently misdiagnosed.
[edit] 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: [2]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, repetitive motions, and rigidity of behavior.
[edit] 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).
[edit] External links
- Cornelia de Lange syndrome - Geneva Foundation for Medical Education and Research
- [3]Cornelia de Lange Syndrome Foundation, Inc
- [4]Genetic Alliance - Advocacy, Education & Empowerment
- [5]Cleft and Craniofacial Anomalies
- [6]Pediatric Database (PEDBASE)
- [7]Cornelia de Lange Syndrome Foundation, Inc. (UK)
- [8]Cornelia de Lange Web Ring (for personal web sites)
