Achondroplasia (dwarfism): symptoms, diagnostics, treatment

The deformity of achondroplasia (dwarfism) is a consequence of gene mutations. It is based on a genetic factor, and no one can tell when it will show itself. In case of 80% of patients, parents have normal height. About 200 diseases are known in the world that cause dwarfism, but the most common two are pituitary dwarfism and achondroplasia. The first is treated with growth hormone, and the second one – by performing comprehensive surgical manipulations. This method makes it possible to increase height by 25-30 cm, so the operation has gained popularity among patients.

The diagnosis of achondroplasia (dwarfism) is successfully treated in Ladisten, the clinic of modern orthopedic technologies.

What is achondroplasia

This is a congenital disease caused by a mutation in the FGFR3 gene. The bones begin to grow incorrectly, they don’t develop in length, the human skeleton becomes disproportionate, and the facial features are distorted. The deformity of achondroplasia (dwarfism) has the most important sign – a small height of about 125-130 cm and short limbs.

Causes of the disease

There is one reason – a genetic factor. But the deformity of achondroplasia (dwarfism) includes some risk factors:

  • age of parents. This is especially relevant to the father. If the father is well over 40, the risk of mutation increases;
  • fetal oxygen starvation in the last months of pregnancy or during birth;
  • the presence of a mutated gene in parents.

It is important to understand that the insidiousness of achondroplasia lies in psychological problems. As for the rest, the mental and intellectual development of small people is completely normal, and the diagnosis of achondroplasia (dwarfism) has been successfully treated for many years by performing operations.

Symptoms

Патология ахондроплазия (карликовость) заметна еще в утробе на УЗИ. Руки и ноги не развиваются. Сразу после рождения у младенца проявляются такие признаки:

  • очень крупная голова;
  • руки заканчиваются в районе пупка, ноги короткие;
  • лоб выпуклый, а задний отдел черепа увеличен;
  • большое расстояние между глазами, они находятся далеко в орбитах;
  • живот сильно выступает вперед;
  • очень широкие стопы и ладони.

Определить точно наличие патологии помогает осмотр врача.

How to identify it

Diagnosis of achondroplasia

After a general examination, X-ray and tomography are performed. Genetic analysis is usually done before pregnancy or during screening. After the birth of a baby, the diagnosis can be confirmed by external signs and the results of X-ray study. The pathology of achondroplasia (dwarfism) is easily diagnosed but difficult to treat. Growth hormone is sometimes used, but this method gives relative results. New studies are being regularly conducted and new drugs are being developed. Some even show a positive effect on animals. However, the only effective method of treatment so far is a surgical operation aimed to lengthen the bones.

Is it possible to live with achondroplasia?

This is a more philosophical question

Millions of people live with dwarfism, successfully create families and rise children. There are thousands of ways to overcome your own complexes, and regarding physical condition, small people just get used to it. Therefore, on the one hand, the diagnosis of achondroplasia (dwarfism) is not destiny. But what we have on the other hand speaks for itself. To live with it or to fight is a difficult moral choice. But the survey carried out among patients with achondroplasia before and after treatment, with all the diversity of opinions, gives a definite answer: height increase is necessary!

Pathology causes discomfort

Physical. Inability to reach an object located high; Physiological. Young people have apnea and deafness as a result of the disease. Urinary and fecal incontinence, decreased libido may develop; Psychological. Complexes about one’s own height, difficult adaptation in society, especially in children. About 80% of patients with achondroplasia suffer from various forms of social phobia.

Preventive measures

Genetic examination of parents before the conception

If one of the parents has a mutated FGFR3 gene, it is impossible to avoid the disease in the offspring.

Intrauterine genetic analysis

The presence of the disease can be identified in the early stages of pregnancy. At the 12th week, during a scheduled examination, the development of the limbs will be visible with help of an ultrasound scan. Further choice is up to the parents.

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Doctors

Our doctors use unique methods of treatment introduced by Veklich V.V.

Founder/Chief surgeon

Veklich Vitaliy Viktorovich

The founder of “Ladisten” medical center of orthopedics and traumatology Veklich Vitaliy Viktorovich is a surgeon in the field of orthopedics and traumatology for children and adults who has been practicing for more than 35 years. Author of the modified external fixation devices – the Veklich devices.

Work experience: 40 years
Anesthesiologist

Oleg Medvedev

Doctor of Medicine, anesthesiologist

Work experience: 27 years
Head doctor, orthopedic and traumatic surgeon

Veklich Viktoria

Head doctor of the Ladisten Clinic Medical Center, a professional certified surgeon in the field of pediatric and adult orthopedics and traumatology.

Work experience: 6 years

PREPARATION

Итак, диагноз ахондроплазия (карликовость) поставлен окончательно. Пациент или его родители решились на операцию по увеличению роста. Как это будет, и что будет после? Нужно подготовиться к тому, что хирургическое вмешательство комплексное и длительное. Занимает оно не один месяц, но результат того стоит! Операций проводится шесть этапов: 3 этапа в детском возрасте и 3 в подростковом. Желательно прибыть в медицинский центр за 2-3 дня до назначенной даты операции, что позволит подготовиться – сдать анализы, настроиться психологически, проконсультироваться с анестезиологом.

REHABILITATION

Каждый этап по времени занимает 5 месяцев, перерыв между этапами 2 — 3 месяца.

Увеличение роста ребенка после завершения лечения составляет 24 — 28 см.

Перед снятием аппаратов фиксации после каждого из этапов делают пробу. Для этого ослабляют фиксацию корректирующего устройства и советуют пациенту в течение 2-3 часов походить. Затем делают рентгенографию, на основании результатов которой лечащий врач принимает решение о снятии аппарата. Процедура занимает не более 10-20 минут, после чего пациент может возвратиться домой либо остаться в клинике, чтобы пройти реабилитацию.

Во время реабилитации необходимо постепенно увеличивать нагрузки на ноги и проводить лечебную гимнастику для укрепления мускулатуры.

Важный момент: после операции практически не остается шрамов!

RESULTS

Our patients have become healthy, beautiful and full of energy with Ladisten Clinic

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Increase in height by 14 centimeters

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Daniel, 15 years old

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Second round of treatment for achondroplasia

Maxim 13 years old, Republic of Belarus

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