Cornelia de Lange syndrome
| Cornelia de Lange Syndrome | |
|---|---|
| Synonyms | Bushy Syndrome |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.1 (ILDS Q87.170) |
| ICD-9-CM | 759.89 |
| OMIM | 122470 |
| DiseasesDB | 29651 |
| eMedicine | ped/482 |
| MeSH | C10.597.606.643.210 |
Cornelia de Lange Syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive, and medical challenges and affects both sexes equally. The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it.
It is often termed Bushy Syndrome and is also known as Amsterdam dwarfism. It is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.
The vast majority of cases are due to spontaneous genetic mutations.
It can be associated with mutations affecting the cohesin complex.
Multiple genes have been associated with the condition. In 2004, researchers at the Children's Hospital of Philadelphia (United States) and the University of Newcastle upon Tyne (England) identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated. Since then, additional genes have been found (SMC1A, SMC3 and HDAC8) that cause CdLS when changed. There are likely other genes as well. Researchers hope to gain a better understanding of why CdLS varies so widely from one individual to another and what can be done to improve the quality of life for people with the syndrome.
The latter two genes seem to correlate with a milder form of the syndrome.
In July 2012, the fourth “CdLS gene”—HDAC8—was announced. Many parents and professionals have questions about this latest finding and what it means. HDAC8 is an X-linked gene, meaning it is located on the X chromosome. Individuals with CdLS who have the gene change in HDAC8 make up just a small portion of all people with CdLS.
Evidence of a linkage at chromosome 3q26.3 is mixed.
Following are the features and characteristics that help in spotting this disorder:
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. They present a characteristic facial phenotype and is recognizable with the Facial Dysmorphology Novel Analysis (FDNA) technology
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