Cornelia de Lange Syndrome

( Cornelia de ) Long -I syndrome

The Cornelia de Lange Syndrome ( CdLS ) is called Dysmorphiensyndrom what multiple congenital malformations says that usually occur in the context of a cognitive disability in appearance. Cornelia de Lange, a Dutch pediatrician who first described this syndrome in 1933.

Genesis

In 2004, the research a gene ( NIPBL ) gene was identified whose mutation is responsible for CdLS in affected people. However, it must be emphasized that this NIPBL gene could only be detected in 50 % of the examined persons.

Scientific sources generally include from a gender- specific occurrence, also the age of the parents at the time of conception has no significant influence. Empirical studies show that the risk of recurrence in siblings is from 2 to 5 %.

Appearance

The persons concerned have certain physical characteristics. These phenotypic features include microcephaly, short stature ( men just below 150 cm, women just over 130 cm), excessive body hair (thick, robust hair, low hairline, long eyelashes, thick, grown together eyebrows), anomalies and malformations of limbs ( for example, ulnar club hand ); low body weight - birth weight usually below 2500 g; broad nasal bridge; high-arched palate, cleft palate, thin lips. The features mentioned shall sometimes the leading symptoms for diagnosis. From a medical perspective gastrointestionale interference with gastroesophageal reflux ( backflow of stomach contents into the esophagus ) are added as characteristic. Severe nutritional disorders ( choking and frequent vomiting, chewing and swallowing problems, lack of interest in food intake ) are associated with it. Based on these complications in the area of ​​food intake following secondary damage can occur: esophagitis, a painful inflammation of the esophagus if not treated the reflux. Furthermore, an untreated reflux favor a pneumonia caused by the entry of gastric contents into the respiratory tract ( Aspirationspneunomie ). Anemia and Aspirationsneigung contribute to growth reduction and pose equally the most common cause of death is not uncommon can occur in connection with the CdLS also congenital heart disease of various kinds, various eye problems and hearing impairments. The severity of the various symptoms is extremely variable and individually different.

Cognitive and adaptive development

In most cases, the autonomy is restricted, however, should be taken into account in this context, the individual 's level of development people. Independent running, sitting, eating and dressing as a degree of independence is achieved by only a few people. If no limb anomalies occur, the fine motor skills in relation to the general level of development are well developed. The field of visual perception and storage is to be regarded as a strength. The course of development depends to a greater extent from early intervention in childhood, usually a developmental delay but will not cease. In general, the spectrum of intellectual abilities is widely dispersed.

Language development

The oral language development varies between individuals. You may not occur in some cases, with delayed development affected people learn in the course of their development opportunities with differentiated characters ( facial, gestural expression, lute, GuK ) to communicate. Work orders should therefore be supported with gestures. It is shown that the receptive language comprehension is better than the ability to express ( expressive language ), but generally lower than the other developed skills.

Social - emotional behavior

People's behavior is individual, but can be characterized and summarized a variety of common behavioral characteristics. At the social level people often act in isolation, such as living in their own world, no distance, open to strangers, they have difficulties in expressing feelings, have a keen interest in the environment exploration. Your physical activity is often hyperactive, restless, in many cases, passive, they can employ only a short time itself. The people show particular interest in the way Mr. Ennen, fling arms around, they have a special relationship to objects need fixed habits and are emotionally aroused at change. People can have rapid mood swings ( excessively happy, very unhappy ), they often seem anxious. In many cases, they show self-injurious behavior ( biting, scratching, hitting head), may also aggression towards other people or also in terms of environmental objects, stereotypes and restlessness which expressions of physical pain, overstimulation or excessive demands are not uncommon.