Many of the school biology lessons remember that the hereditary information transmitted from father and mother to their children is in the human genome, consisting of 23 pairs of chromosomes. They contain about 28 thousand genes, each of which plays its most important role in the formation of the human body. Mutational changes in only one of them can provoke Cornelia de Lange syndrome, a very unpleasant, and in most cases quite serious disease, often leading to death. Many authors argue that those with this syndrome have no chance. Nevertheless, do not despair, because modern science and medicine do real miracles.
Etymology of the name
Cornelia de Lange Syndrome was named after the child doctor who described him in detail, Cornelia de Lange, who lived and worked in Holland in the 30s of the 20th century. In her practice, she observed 5 such cases, the last time at once of two girls who were not relatives. In 1933, Cornelia made a detailed description and conclusion of her observations. But much earlier (in 1916) the German doctor V. Brahman diagnosed and described this disease in detail, therefore the name Brahman syndrome - Lange is often used. In addition, the name Amsterdam syndrome is found, since in this city three children are immediately recorded who have revealed such a pathology. All three names are one and the same disease. It is found on all continents, in people of all races and ethnic groups, with the same frequency in both boys and girls. For almost a hundred years since the first description, about 400 cases of this pathology have been studied in detail.
Anomalies of the head and skin
Cornelia de Lange syndrome can be suspected from the first minutes of a baby’s life. Primary symptoms:
1. Low birth weight (approximately 2/3 of the norm).
2. Anomalies of the skull:
- microcephaly (skull is approximately 10% less than normal (in 98% of patients);
- brachycephaly (increase in the transverse size (width) of the skull compared with its longitudinal dimensions);
- reduction of the brain part of the head.
More than half of the newborns have increased hairiness of the back, and sometimes the whole body. The skin of approximately 2/3 of infants has a bluish pattern with well visible vessels (marbling of the skin), but this symptom is not determining in the diagnosis of this disease.
Facial anomalies
Defects in the face of the newborn are the most striking criteria to diagnose Cornelia De Lange syndrome. The photo of the baby above clearly shows this. Deviations from generally accepted norms include:
- clearly outlined, like drawn eyebrows, converging on the bridge of the nose (99% of cases);
- beautiful, long eyelashes, often bent back (99%);
- a small nose on which the nostrils bulge forward (88%);
- wide and sunken nose bridge (88%);
- mouth with lowered corners (94%);
- non-standard large distance between the nose and lips;
- low ears;
- underdevelopment (hypoplasia) of the lower jaw (84%);
- the border of the hairline is too low on the forehead and / or neck (94%).
All of the above deviations on the face of a newborn can be present, but only some can.
Anomalies of the internal organs
Hypoplasia (underdevelopment) and pathological disorders in the formation of internal organs pose the greatest danger to the lives of children who have identified Cornelia de Lange syndrome. Diagnostics includes MRI, X-ray, ultrasound, rhinoscopy, cytogenetic analyzes and other modern methods.
With this disease can be observed:
- atresia of the choan, or more simply, obstruction of the nasal cavity (this pathology is completely unrelated to de Lange syndrome and is easily diagnosed by the way the baby breathes or using a probe);
- defects in the structure of the heart (vascular defects, valves, septa);
- Gastrointestinal defects (cecum motile, some others);
- Genitourinary system defects (approximately 50% of patients);
- kidney cysts, hydronephrosis;
- pathologies in the brain tissue (gyrus dysplasia, corpus callosum aplasia , and others);
- too high or with a cleft palate;
- cryptorchidism.
Again, it is not necessary that one of the sick child had all of the above-mentioned defects in the internal organs.
Anomalies of the musculoskeletal system
Newborns may have defects in the limbs, spine, chest, which also diagnoses Cornelia De Lange syndrome (photos of people with this disease are presented in the article).
Some defects are immediately visible. It:
- the absence of one or more fingers on the hands;
- fused fingers (more common on the feet);
- deformed spine and / or chest.
With the growing up of the child, the following deviations become quite significant:
- growth lag (in some cases, nanism);
- underdevelopment, shortening of the limbs;
- small hands and feet;
- too short neck;
- a limitation in the ability of the elbow joints to bend-unbend (contracture).
Neurological abnormalities and pathologies of the senses
Unfortunately, there are many other problems in children who are diagnosed with Cornelia de Lange Syndrome. Symptoms associated with a child’s neurological condition may include:
- newborns sluggishly suck, often spit up;
- low mobility and motor activity;
- muscle hypotension (muscle tone is reduced, there is no strength in the arms and legs);
- periodic occurrence of seizures.
Children with de Lange syndrome have hearing, vision, and speech problems. Many of them speak poorly or hardly speak at any age. Parents note that in most cases, babies express their desires with gestures. With vision they have such problems:
- squint;
- myopia;
- astigmatism;
- atrophy of the optic nerve.
Intellectual development
Cornelia de Lange syndrome, in addition to all other health complications, causes mental retardation, which is noted in almost every sick child, and in 80% of cases, imbecility or debility is diagnosed. However, there are children with de Lange syndrome who attend regular preschool and school facilities. It depends on which of the two forms the disease is diagnosed with. The first is called classical, in which there are many deviations in the formation and functioning of internal organs, external anomalies and a pronounced delay in mental development. The second form is conditionally called blurry. With it, one or another external deviation is observed, there are some problems with internal organs, but intellectual development has a border delay.
As parents note, children with de Lange syndrome at any age do not ask for a toilet, are often prone to irritation, like to perform various actions unusual for healthy children: constantly tearing paper, eating it, breaking everything that falls into their hands, moving in circles all the time . Such actions of children soothe them.
Causes of the disease
Almost a hundred years have passed since the moment when the syndrome of Cornelia de Lange was first described. The causes of the disease during this time were found. They are mutations in genes. The greatest number of cases was recorded during mutations in the 5th chromosome, more precisely in the NIPBL gene located in its “p” shoulder. A small percentage of de Lange syndrome occurs in people with a mutation of the 1A protein of the chromosomes (called the SMC1A gene), and one case is also noted with a mutation in the chromosome protein called the SMC3 gene. However, the causes of these gene mutations are still at the stage of theories and assumptions.
It is believed that they can be caused by infectious diseases of a pregnant woman, especially in the first trimester, some medications, the old age of the father of the child, or the age of women in labor over 35 years, as well as marriages between relatives.
But none of these reasons is indisputable and 100% causing genetic changes.
The hypothesis is still being worked out that Cornelia de Lange syndrome is inherited, however, in more than half of the examined patients, this disease arose sporadically, for the first time in the family.
Cornelia de Lange syndrome: prognosis
It is believed that this disease is very rare. There is no single data with what frequency it occurs. Some sources claim that one child per 10,000 newborns gets sick, others say that one in 100,000, and others call different numbers in this range. If you think about it, it’s not so little. According to statistics, about 370 thousand babies are born on earth daily. That is, if you take even the lowest rates, about 4 people are born every day who are diagnosed with Cornelia de Lange syndrome.
How many such people live depends on many factors, the determining ones of which are the degree of anomalies of the internal organs, their timely detection and the quality of the medical effects. If the baby has pathologies of the internal organs that are incompatible with life, he dies in the first month after birth. If the abnormalities of the internal organs are insignificant or the child underwent surgical intervention on time, his life span can be quite long. Complicating the prognosis is the fact that the body of patients with de Lange syndrome is not able to provide persistent resistance to ordinary diseases, for example, viral ones, and it is more difficult to fight them.
Treatment
Most authors and sources claim that there is no way to cure a child who is diagnosed with Cornelia de Lange syndrome. Treatment comes down to surgery (if indicated), taking vitamins, nootropic drugs (affect brain function), anabolics, and sedative therapy. However, in our time, the highest technology, if not completely defeat the disease, then significantly reduce its manifestation. This requires faith in success, inhuman patience and money, because the treatment is expensive. Here are the contacts of clinics and centers where they come to help:
1. Kiev. The Scientific and Methodological Center “Truth”, located on Williams Street, building No. 4. Phones: + 38-044-467-63-89, + 38-095-068-30-74. They work here according to the method of Ulyana Lushchyk, there are many positive reviews.
2. Moscow, Solntsevo. The Scientific and Practical Center, located on Aviatorov Street, building No. 38. Phones: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. There are many reviews that children with de Lange syndrome feel much better after treatment at this center.
3. Israel. Center for Biocorrection them. Vasiliev (treatment costs from 10 thousand cu). Phone: 972-352-333-89.
In children diagnosed with Cornelia de Lange Syndrome, life expectancy largely depends on the selfless care of their native people, because you need to deal with such patients almost every minute. Very often, the achieved positive treatment results are reduced or reduced to zero if they stop treatment or simply because a relapse occurs.
According to the reviews of parents, kinesitherapy, special rehabilitation programs for swimming with dolphins in dolphinariums, biorhythmic correction, aromatherapy, music classes, light therapy give positive results in the treatment of their children.
Prevention
It is difficult to talk about the preventive measures of the disease, the causes of which are not known to anyone. Given the established factors that can cause mutations at the genetic level, we can advise:
- prevent the conception of children from blood relatives;
- be wary of late motherhood and fatherhood;
- during pregnancy, especially in the first months, take all measures to avoid viral infections, and in case of illness, take medication only after consulting a doctor.
Based on studies of patients with Cornelia de Lange syndrome, doctors tend to believe that in one family a sick child can be born again in 2% of cases, and in those families where the father or mother have some symptoms of de Lange syndrome, a sick child can be born in 25% of cases. In this regard, all women at risk should undergo an in-depth prenatal diagnosis, in particular, to check for the presence of PAPPA protein in the blood serum. If he is absent, there is a very high probability of having a baby with Cornelia de Lange syndrome.