Cornelia de Lange Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.1 | Congenital malformations that are predominantly associated with short stature
(Cornelia-de-) Lange I syndrome |
| ICD-10 online (WHO version 2019) | |
The Cornelia de Lange Syndrome ( CdLS ) is called Dysmorphiensyndrom what multiple congenital malformations thinks the mostly associated with a cognitive appear disability. Cornelia de Lange , a Dutch pediatrician, described this syndrome in 1933.
Synonym : Brachmann de Lange Syndrome after the author of the first description from 1916 by the German doctor Winfried Robert Clemens Brachmann .
genesis
In 2004, research was able to identify a gene (NIPBL) in affected people whose mutation is responsible for CdLS. It must be emphasized, however, that changes in the NIPBL gene could only be proven to be the cause in 50% of the persons affected.
Scientific sources generally rule out a gender-specific occurrence, and the age of the parents at the time of conception also has no significant influence. Empirical studies show that the risk of repetition in siblings is 2 to 5%.
Appearance
The persons concerned have certain external characteristics. These phenotypic features include: microcephaly , short stature (men just under 150 cm, women just over 130 cm), excessive body hair (thick, strong scalp hair, low hairline, long eyelashes, thick, coalesced eyebrows), anomalies and malformations of the limbs (for example ulnar clubhand ); low body weight - birth weight usually less than 2500 g; wide bridge of the nose; high palate, cleft palate , thin lips. The features mentioned sometimes correspond to the key symptoms for diagnosis . From a medical point of view, gastrointestinal disorders with gastroesophageal reflux (reflux of stomach contents into the esophagus) should be added as characteristic. Serious nutritional disorders (gagging and frequent vomiting, chewing and swallowing problems, little interest in eating) go hand in hand. Based on these complications in the area of food intake, the following secondary damage can occur: Esophagitis , a painful inflammation of the esophagus, if the reflux is not treated. In addition, untreated reflux can promote pneumonia due to stomach contents entering the airways (aspiration pneumomy). Anemia and the tendency to aspiration contribute to reduced growth and are equally the most common cause of death. It is not uncommon for congenital heart defects of various types, various eye problems and hearing impairments to occur in connection with CdLS . The severity of the various symptoms is extremely variable and individually different.
Cognitive and Adaptive Development
In most cases, independence is limited, but in this context the individual level of development of the respective person should be taken into account. Independent walking, sitting, eating and dressing as a degree of independence is only achieved by a few people. Unless there are limb abnormalities, fine motor skills are well developed in relation to the general level of development. The area of visual perception and storage is seen as a strength. The course of development depends to a greater extent on early intervention in childhood, but there is usually a development delay. In general, the spectrum of intellectual abilities is broad.
Language development
The development of spoken language varies from person to person . In some cases, it may not take place; in the case of delayed development, the affected people learn in the course of their development how to communicate with differentiated signs (facial expressions, gestural means of expression, sounds, GuK ). Work orders should therefore be supported with gestures. It turns out that receptive language comprehension is better than expression (expressive language), but generally less developed than other skills.
Social-emotional behavior
People's behavior varies from person to person, but various frequently occurring behavioral characteristics can be characterized and summarized. In the social sphere, people often appear isolated, as if they were living in their own world, without a distance, open to strangers, they have difficulties in expressing feelings, they have a great interest in exploring the environment. Their physical activity is often hyperactive , restless, in many cases also passive, and they can only occupy themselves for a short time. The people show a particular interest in running back and forth, throwing arms around, they have a special relationship with objects, need fixed habits and are emotionally aroused when they change. People can have rapid mood swings (overly happy, very unhappy) and often appear anxious. In many cases, they display self-harming behaviors (biting, scratching, hitting the head), etc. U. also aggression towards other people or also in relation to environmental objects, stereotypes and restlessness, which are not infrequently expressions of physical pain, overstimulation or excessive demands .
Web links
Individual evidence
- ↑ Cornelia de Lange: Sur une type nouveau de dégénération (typus Amstelodamensis). In: Arch Méd Enfant (Paris) . tape 36 , 1933, pp. 713-719 .
- ↑ W. Brachmann: A case of symmetrical monodactyly due to ulnar defect, with symmetrical flight skin formation in the elbows, as well as other abnormalities (dwarfism, cervical ribs, hairiness). In: Yearbook for Pediatrics and Physical Education. Vol. 84, 1916, pp. 225-235.
- ↑ Who named it
- ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
