| Cornelia de Lange Syndrome Classification and external resources |
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| ICD-10 | Q87.1 (ILDS Q87. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings Q00-Q89 - Congenital malformations and deformations (Q00-Q07 Nervous system ( Anencephaly and similar malformations The International League of Dermatological Societies (ILDS is a Non-governmental organization affiliated with the World Health Organization. 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 little known genetic disorder that can lead to severe developmental anomalies. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases 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 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 by Scott Plantz and Richard Lavely two medical doctors Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired It affects both the physical and intellectual development of a child. Exact incidence is unknown, but is estimated at 1 in 10,000 to 30,000. [1]
Contents |
Causes
A gene responsible for CdLS—NIPBL on Chromosome 5—was discovered in 2004 by researchers at Children’s Hospital of Philadelphia. NIPBL is a protein associated with Cornelia de Lange Syndrome. Chromosome 5 is one of the 23 pairs of Chromosomes in Humans People normally have two copies of this chromosome [2] In 2006, a second gene—SMC1A on the X chromosome—was found by Italian scientists. Structural maintenance of chromosomes 1A, also known as SMC1A, is a human Gene. The X chromosome is one of the two sex-determining Chromosomes in many animal species including mammals (the other is the Y chromosome) A third gene discovery was announced in 2007. The gene SMC3 is on chromosome 10 and was also discovered by the research team in Philadelphia. SMC proteins represent a large family of ATPases that participate in many aspects of higher-order chromosome organization and dynamics Chromosome 10 is one of the 23 pairs of Chromosomes in Humans People normally have two copies of this chromosome The latter two genes seem to correlate with a milder form of the syndrome.
The vast majority of cases are due to spontaneous mutations, although the defected gene can be inherited from either parent, making it autosomal dominant.
History
The first ever documented case was in 1916 by Dr. W. Brachmann[3] followed up by Dr. Cornelia de Lange,[4] a Dutch pediatrician, in 1933 after whom the disorder has been named.
Diagnosis
The diagnosis of CdLS is primarily a clinical one based on signs and symptoms (see below) observed through an evaluation by a physician, including a medical history, physical examination, and laboratory tests. Since 2006, testing for NIPBL and SMC1A has been available through the University of Chicago [1]. This is best accomplished through a referral to a genetics specialist or clinic.
CdLS is thought to be underdiagnosed and frequently misdiagnosed.
Features and characteristics
Following are the features and characteristics which help in spotting this disorder:
- Low birth weight (usually under 5 pounds / 2. Birth weight is the weight of a baby at its birth. It has direct links with the Gestational age at which the child was born and can be estimated 5 kilograms)
- Delayed growth and small stature
- Developmental delay
- Limb differences (missing limbs or portions of limbs)
- Small head size (microcephaly)
- Thick 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. Developmental disability is a term used to describe life-long disabilities attributable to mental and/or physical or combination of mental and physical impairments Microcephaly is a Neurodevelopmental disorder in which the circumference of the head Synophrys, also known as a An eyelash or simply lash is one of the hairs that grow at the edge of the Eyelid. The philtrum ( Greek philtron (φιλτρον from philein (φιλειν "to love to kiss" also known as the infranasal depression 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
Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Ptosis is an abnormally low position (drooping of the upper Eyelid. Nystagmus is a type of eye movement characterized by alternating slow phase movements in one direction and Saccade -like quick phases in the other direction Myopia (from Greek: μυωπία myopia "near-sightedness" also called near- or short-sightedness, is a refractive defect 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 ( American English and Canadian English) or Gastro-oesophageal reflux disease ( British English, Hiberno-English An epileptic seizure is caused by excessive and/or hypersynchronous electrical Neuronal activity and is usually self-limiting The heart is a muscular organ in all Vertebrates responsible for pumping Blood through the Blood vessels by repeated rhythmic Cleft lip (cheiloschisis and cleft palate (palatoschisis which can also occur together as cleft lip and palate are variations of a type of clefting Congenital Body hair can be excessive and affected individuals are often shorter than their immediate family members.
CdLS can give rise to its own array of complexities. Children with CdLS often suffer from gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. Constipation, costiveness, or irregularity, is a condition of the Digestive system in which a person (or animal experiences hard Feces that In Medicine, diarrhea, also spelled diarrhoea (see spelling differences) is frequent loose or liquid Bowel movements Acute diarrhea However, symptoms may range from mild to severe.
CdLS may also include a number of behavior problems, including self-stimulation, aggression, self-injury or strong preference to a structured routine. Many children with CdLS exhibit autistic-like behaviors and are on the autism spectrum.
Behavior problems in CdLS are not inevitable. Many behavior issues associated with CdLS are reactive (i. e. , something happens within the person's body or environment to bring on the behavior), and cyclical (comes and goes). Often, an underlying medical issue causes a change in behavior. Once the medical issue is treated, the behavior diminishes.
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). Treatment protocols can be viewed at http://www.cdlsusa.org/treatment_protocols.shtml.
Support
United States
The Cornelia de Lange Syndrome (CdLS) Foundation is a national, nonprofit, family support organization based in Connecticut. The Foundation provides a host of services that attract, educate, and unite families touched by CdLS.
Education & Information: A hallmark service of the CdLS Foundation has been to provide detailed materials for public education and information. Since the first publication of the bi-monthly newsletter, Reaching Out, in 1977, the Foundation has kept families and others informed on issues relevant to the syndrome. In addition to Reaching Out, the Foundation produces and distributes several other publications on the syndrome, as well as a free video [2].
Family Support: When someone is in need of assistance, the Foundation's family service coordinators are prepared to help. Calls placed to toll-free support lines are answered by caring professionals who are willing to listen. The Foundation web site www. cdlsusa. org also features an Ask the Doctor [3] forum.
Out in the community, volunteer regional coordinators assist the Foundation by reaching out to new families, uniting old ones, and providing peer-to-peer support. Bi-annual national conferences provide families with individual consultations, presentations from experts, and opportunities to meet with others in similar situations.
External links
- [4]Cornelia de Lange Syndrome Foundation, Inc
- Development of Diagnostics and Therapeutics for Cornelia de Lange Syndrome
- [5]Genetic Alliance - Advocacy, Education & Empowerment
- [6]Cleft and Craniofacial Anomalies
- [7]Pediatric Database PEDBASE
References
- ^ Cornelia de Lange syndrome - Genetics Home Reference. Retrieved on 2007-08-24. Year 2007 ( MMVII) was a Common year starting on Monday of the Gregorian calendar in the 21st century. Events 49 BC - Julius Caesar 's General Gaius Scribonius Curio is defeated in the Second Battle of the Bagradas River
- ^ Krantz ID, McCallum J, DeScipio C, et al (2004). "Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B". Nat. Genet. 36 (6): 631–5. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15146186.
- ^ Brachmann, W. Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung). Jarb. Kinder. Phys. Erzie. 84: 225-235, 1916.
- ^ de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
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