Cornelia de Lange syndrome: photos, causes, symptoms, diagnosis, prognosis, life expectancy, treatment

Many of the school biology lessons remember that hereditary information transmitted from the 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 of only one of them can provoke Cornelia de Lange syndrome, very unpleasant, and in most cases a fairly serious disease, often leading to death. Many authors claim that those who suffer from this syndrome have no chance. And yet, do not despair, because modern science and medicine are doing real miracles.

Etymology of the name

Cornelia de Lange syndrome was so named in honor of his described child physician named Cornelia de Lange, who lived and worked in the Netherlands in the 1930s. She in her practice observed 5 such cases, the last time just two girls who were not relatives. In 1933, Cornelia made a detailed description and conclusion of her observations. But much earlier (in 1916) the same disease was diagnosed and described in detail by the German physician W. Brahman, therefore the name Brahman-Lange syndrome is often used. In addition, there is the name Amsterdam syndrome, as in this city there are at once three children who showed such a pathology. All three names are the same disease. It occurs on all continents, in people of all races and ethnic groups, with the same frequency as in boys and girls. For nearly a hundred years, since the first description, about 400 cases of this pathology have been studied in detail.

Abnormalities 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. Skull anomalies:

- microcephaly (skull approximately 10% less than the norm (in 98% of patients);

- Brachycephaly (an increase in the transverse dimension (width) of the skull as compared to its longitudinal dimensions);

- Reduction of the cerebral part of the head.

More than half of the newborns have an increased hairiness of the back, and sometimes the entire body. The skin of about 2/3 of babies has a cyanotic pattern with well-visible vessels (marbling of the skin), but this symptom is not determinative in the diagnosis of this disease.

Anomalies of the face

Defects on the face of the newborn are the most vivid criteria to diagnose Cornelia De Lange syndrome. Photo of the baby above shows this clearly. Deviations from generally accepted norms include:

- clearly outlined, as drawn eyebrows, converging on the bridge of the nose (99% of cases);

- beautiful, long eyelashes, often bent backwards (99%);

- small spout, on which the nostrils protrude forward (88%);

- wide and sunken nose bridge (88%);

- mouth with lowered corners (94%);

- Nonstandardly large distance between the nose and lips;

- low ears;

- Underdevelopment (hypoplasia) of the lower jaw (84%);

- the margin of the hairline (94%) is too low on the forehead and / or back of the head.

The above deviations in the face of the newborn can be present all, but only a few.

Anomalies of internal organs

Hypoplasia (underdevelopment) and pathological disorders in the formation of internal organs are the greatest danger to the lives of children who have 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 khohan, or, more simply, the obstruction of the nasal cavity (this pathology is completely unrelated to the de Lange syndrome and is easily diagnosed by the way a baby breathes or with a probe);

- defects in the structure of the heart (vascular defects, valves, partitions);

- Gastrointestinal tract defects (the caecum is mobile, some others);

- Defects of the genitourinary system (approximately in 50% of patients);

- kidney cysts, hydronephrosis;

- pathology in the brain tissue (dysplasia of the gyri, aplasia of the corpus callosum and others);

- too high or with a cleft palate;

- cryptorchidism.

Again, it is not necessary for one sick child to have all of the above defects of the internal organs.

Anomalies of the musculoskeletal system

In newborns, there may be defects in the limbs, spine, and thorax, for which Cornelia De Lange syndrome is also diagnosed (photos of people with this disease are presented in the article).

Some defects are visible immediately. It:

- absence of one or more fingers on hands;

- Fused fingers (more common on legs);

- deformed spine and / or thorax.

With the growing up of the child, the following deviations become quite significant:

- lag in growth (in some cases, nazism);

- underdevelopment, shortening of limbs;

- small hands and feet;

Too short neck;

- restriction in the ability of the elbow joints to bend-unbend (contracture).

Neurological abnormalities and pathologies of the sensory organs

Unfortunately, there are many other problems in children diagnosed with Cornelia de Lange syndrome. Symptoms of the disease associated with the neurological condition of the child may be:

- newborns sluggishly suck, often regurgitate;

- low mobility and motor activity;

- hypotension of muscles (muscle tone is lowered, there is no strength in the arms and legs);

- Periodic occurrence of seizures.

Children with Langhe syndrome have problems with hearing, sight and speech. Many of them speak poorly or hardly speak at any age. Parents note that in most cases the kids express their desires with gestures. With vision they have such problems:

- strabismus;

- short-sightedness;

- astigmatism;

- atrophy of the optic nerve.

Intellectual development

Cornelia de Lange syndrome, in addition to all other complications with health, 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 the de Lange syndrome who attend ordinary pre-school and school facilities. It depends on which of the two forms the disease is diagnosed. The first is called classical, in which there are many deviations in the formation and operation of internal organs, external anomalies and pronounced retardation of mental development. The second form is conditionally called smeared. With it, there are some external deviations, there are some problems with internal organs, but intellectual development has a border delay.

As the parents point out, children with the de Lange syndrome at any age do not ask to go to the toilet, are often prone to irritation, like to perform various actions uncharacteristic to healthy children: constantly tearing paper, eating it, breaking everything that gets in their hands, all the time moving in a circle . Such actions of children as if soothe them.

Causes of the disease

Almost a hundred years have passed since the moment when Cornelia de Lange syndrome was first described. During this time, the causes of the disease were found out. They are mutations in the genes. The greatest number of cases was recorded with mutations in the 5th chromosome, more precisely in the NIPBL gene located in its arm "p". A small percentage of the Lange syndrome is found in people with a mutation of the chromosome 1A protein (called the SMC1A gene), and one case is noted with a mutation also in a chromosomal protein called the SMC3 gene. However, the causes that cause these gene mutations are still in the stage of theories and assumptions.

There is an opinion that they can be caused by infectious diseases of the pregnant woman, especially in the first trimester, some medications, old age of the child's father or the age of parturient women older than 35, and marriages between relatives.

But none of the above reasons is not certain and 100% causing genetic changes.

Another hypothesis is that the syndrome of Cornelia de Lange is inherited, but more than half of the patients examined this disease arose sporadically, for the first time in the genus.

Cornelia de Lange syndrome: prognosis

It is believed that this disease is very rare. Single data, with what frequency it occurs, no. Some sources claim that one child falls on 10,000 newborns, others that one per 100,000, some 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 every day. That is, if you take even the lowest rates, every day about 4 people are born who are diagnosed with Cornelia de Lange syndrome.

How many such people live depends on many factors, which are determined by the degree of anomalies of internal organs, their timely detection and the quality of medical effects. If a child has pathologies of internal organs incompatible with life, he dies in the first month after birth. If the anomalies of internal organs are insignificant or the child was surgically interrupted in time, the life span may be long enough. Complicating the prediction is the fact that the body of patients with the de Lange syndrome is not able to resist the usual diseases, for example, viral diseases, and it is more difficult to fight them.

Treatment

Most authors and sources claim that there is no way to cure a child who has Cornelia de Lange syndrome diagnosed. Treatment is reduced to surgical operations (if there is evidence), the intake of vitamins, nootropics (affect brain function), anabolic drugs, sedation. However, in our time, the highest technology can, if not completely defeat the disease, then significantly reduce its manifestation. This requires a belief in success, inhuman patience and money, because treatment is expensive. Here are the contacts of clinics and centers, where they come to help:

1. Kiev. The scientific and methodological center "Istina", located on Williams Street, Building No. 4. Telephones: + 38-044-467-63-89, + 38-095-068-30-74. Here they work according to the method of Ulyana Lushchik, 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 the de Lange syndrome after the treatment courses in this center are getting much better.

3. Israel. Biocorrection Center. Vasilieva (treatment costs from 10 thousand US dollars). Phone: 972-352-333-89.

In children diagnosed with Cornelia de Lange syndrome, life expectancy largely depends on the self-sacrificing care of their loved ones, because you need to deal with such patients almost every minute. The very often achieved positive results of treatment are reduced or reduced to zero if treatment is discontinued or simply because a relapse occurs.

According to the parents, positive results in the treatment of their children give kinesitherapy, special rehabilitation programs for swimming with dolphins in the dolphinarium, biorhythm correction, aromatherapy, music classes, light therapy.

Prevention

It is difficult to talk about preventive measures of the disease, the causes of which are unknown to anyone. Given the established factors that can cause mutations at the genetic level, one 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 the studies of patients with Cornelia de Lange syndrome, doctors tend to believe that a sick child can be born again in 2% of cases, and in families where the father or mother has some symptoms of de Lange syndrome, the sick child can be born In 25% of cases. In this regard, all women at risk should undergo profound prenatal diagnosis, in particular to check for the presence of RARRA protein in the blood serum. If he is absent, there is a very high probability of having a child with Cornelia de Lange syndrome.