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Cornelia de Lange Syndrome aka CdLS is a rare genetic disorder that leads to severe developmental anomalies. It is known to affect both the physical and intellectual development of a child. The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
// Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous...
The International League of Dermatological Societies (ILDS) is a non-governmental organization affiliated with the World Health Organization. ...
The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ...
A genetic disorder, or genetic disease, is a condition caused by abnormal expression of one or more genes resulting in a clinical phenotype. ...
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. Chromosome 5 is one of the 23 pairs of chromosomes in humans. ...
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. It has been suggested that this article or section be merged into Dominance relationship. ...
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.
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 identify 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.
Features and characteristics Following are the features and characteristics which help in spotting this disorder: Source: [2]Special Child: Disorder Zone Archives Low birth weight is defined by the World Health Organization (WHO) as a fetus who is delivered to a reproductive female at the end of a pregnancy at a weight of < 2500 grams (WHO, 1969). ...
Mental retardation (abbreviated as MR), is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal intellectual capacity as an adult. ...
The artist Frida Kahlo often portrayed herself with a notable unibrow. ...
An eyelash or simply lash is one of the hairs that grow at the edge of the eyelid. ...
The philtrum (Greek philtron, from philein, to love; to kiss) is the vertical groove in the upper lip, formed where the nasomedial and maxillary processes meet during embryonic development. ...
Ptosis is the paralysis of the muscles of the eyelid. ...
Nystagmus is rapid involuntary rhythmic eye movement, with the eyes moving quickly in one direction (quick phase), and then slowly in the other (slow phase). ...
Normal vision. ...
Hypertropia is a condition of misalignment of the eyes (strabismus), whereby the visual axis of one eye is higher than the fellow fixating eye. ...
Gastroesophageal Reflux Disease (GERD, or GORD when -oesophageal, the BE form, is substituted) is injury to the esophagus that develops from chronic exposure of the esophagus to acid coming up from the stomach (reflux). ...
This article is about the medical condition. ...
The heart and lungs, from an older edition of Grays Anatomy. ...
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. The gastrointestinal tract (GI tract), also called the digestive tract, alimentary canal, or gut, is the system of organs within multicellular animals that takes in food, digests it to extract energy and nutrients, and expels the remaining waste. ...
Constipation or irregularity, is a condition of the digestive system where a person (or animal) experiences hard feces that are difficult to eliminate; it may be extremely painful, and in severe cases (fecal impaction) lead to symptoms of bowel obstruction. ...
Types 5-7 on the Bristol Stool Chart are often associated with diarrhea Diarrhea (in American English) or diarrhoea (in British English) is a generally unpleasant condition in which the sufferer has frequent watery, loose bowel movements (from the ancient Greek word διαÏÏοή = leakage; literally meaning to run through). Acute infectious...
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. http://www. ...
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).
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