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|ICD-10||Q871 (ILDS Q87.170)|
Cornelia de Lange Syndrome aka CdLS is a little known genetic disorder that can lead to severe developmental anomalies. 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.
A gene responsible for CdLS—NIPBL on Chromosome 5—was discovered in 2004 jointly by researchers at the Children’s Hospital of Philadelphia, USA and researchers at Newcastle University, UK. In 2006, a second gene—SMC1A on the X chromosome—was found by Italian scientists. 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. 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 defective gene can be inherited from either parent, making it autosomal dominant.
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 . This is best accomplished through a referral to a genetics specialist or clinic.
CdLS is thought to be underdiagnosed and frequently misdiagnosed.[How to reference and link to summary or text]
Features and characteristicsEdit
Following are the features and characteristics which help in spotting this disorder:
- Low birth weight (usually under 5 pounds / 2.5 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.g., ptosis, nystagmus, high myopia, hypertropia)
- Partial joining of the second and third toes
- Incurved 5th fingers
- Gastroesophageal reflux
- Heart defects
- Cleft palate
- Feeding problems
Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). 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. 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.
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.
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.
- Main article: Genetic counseling: Cornelia de Lange Syndrome
The Cornelia de Lange Syndrome (CdLS) Foundation is a nonprofit, family support organization based in Connecticut which provides materials for public education and information. In addition to Reaching Out, a bi-monthly newsletter, the Foundation produces and distributes several other publications on the syndrome, as well as a free video .
- ↑ Cornelia de Lange syndrome - Genetics Home Reference. URL accessed on 2007-08-24.
- ↑ 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.
- ↑ Tonkin E, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004). NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36 (6): 636–641.
- ↑ Brachmann, W. Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitaeten (Zwerghaftigkeit, Halsrippen, Behaarung)(A case of symmetrical monodactyly, representing ulnar deficiency, with symmetrical antecubital webbing and other abnormalities, (dwarfism, cervical ribs, hirsutism)). Jahrbuch fuer Kinderheilkunde und physische Erziehung 84: 225-235, 1916.
- ↑ de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
- ↑ http://www.whonamedit.com/synd.cfm/1080.html
- Cornelia de Lange Syndrome Foundation, Inc
- Development of Diagnostics and Therapeutics for Cornelia de Lange Syndrome
- Genetic Alliance - Advocacy, Education & Empowerment
- Cleft and Craniofacial Anomalies
- Pediatric Database PEDBASE
- Leiden Open Variation Database for Cornelia de Lange Syndrome
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