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Akhondroplaziya is a congenital disease at which process of growth of bones of a skeleton and the basis of a skull is broken. The genetic mutation is the reason of development of pathology. A part of fruits perishes vnutriutrobno. At the birth of violation are noticeable from the first days of life: the head is increased, extremities are shortened. In the subsequent the expressed lag in growth of hands and legs at the normal size of a trunk is observed, there are valgusny and varusny deformations of extremities, deformations of a backbone. Because of skeletal pathology secondary violations from internals can develop. Treatment is symptomatic, it is directed to prevention and elimination of rough deformations.


Akhondroplaziya (congenital hondrodistrofiya, Parro-Mari's disease, diafizarny aplaziya) – a genetic disease at which shortening of extremities in combination with the normal length of a trunk is observed. Characteristics are the low growth (130 and less see) bent forward a backbone, a saddle nose and rather big head with the acting frontal hillocks. Akhondroplaziya arises at one of 10 thousand newborns, the woman suffer more often than men. Ways to completely cure an akhondroplaziya, having restored growth and proportions of a body, now does not exist. Treatment is directed to minimization of negative consequences of a disease.

Akhondroplaziya reasons

Violation of development of bones owing to genetically caused dystrophy of epifizarny cartilages is the cornerstone of pathology. FGFR3 gene mutation is the reason of development of a disease. In 20% of cases the akhondroplaziya is descended, develops in 80% for the first time the resulted mutation. Because of a chaotic arrangement of cages of a rostkovy zone there is a violation of normal process of ossification. As a result growth of bones is slowed down. At the same time only the bones growing on enkhondralny type are surprised: tubular bones, skull basis bones etc. The bones of the arch of a skull growing from connecting fabric reach the put size that results in discrepancy of proportions between the head and a body, becomes the reason of characteristic change of a shape of a skull.

Akhondroplaziya symptoms

Violation of anatomic proportions is noticeable already at the birth: the child with an akhondroplaziya has rather big head, short handles and legs. The forehead is convex, a brain part of a skull is increased, occipital and parietal hillocks stick out. Hydrocephaly is in some cases possible. The violations of a structure of a facial skeleton which arose owing to the wrong development of bones of the basis of a skull are noted. Eyes of patients with an akhondroplaziya are widely placed, are deeply in orbits, about internal corners of eyes there are additional folds. The nose is saddle, flattened, with a wide top part, frontal bones considerably act forward, the top jaw also considerably acts over lower forward. Abusive language, sky high.

The lower and top extremities of patients with an akhondroplaziya are evenly shortened, generally – at the expense of proximal segments (hips and shoulders). Handles of the newborn child reach only a navel. All segments of extremities are a little bent. Feet wide and short. Palms are wide, II-V fingers short, almost identical length, the I finger is longer than the others. In the first months of life at patients with an akhondroplaziya on extremities fatty pillows and skin folds are visible. The trunk is normally developed, the thorax is not changed, the stomach is stuck out forward, and the basin is inclined kzad therefore buttocks act stronger, than at healthy children.

At babies with an akhondroplaziya more often than at their healthy peers, sudden death in a dream develops. It is supposed that the sdavleniye of a medulla and the top part of a spinal cord because of anomaly of a form and the size of an occipital opening is a cause of death in such cases. Besides, violations of breath because of features of a structure of the person, big almonds and a small thorax are characteristic of the children suffering from an akhondroplaziya.

On 1-2 year of life because of violation of a muscular tone at patients with an akhondroplaziya it can be formed cervicothoracic , disappearing after the beginning of walking. At all children some lag in physical development is noted. They begin to hold a head only after 3-4 months, learn to sit in 8-9 months and later and start walking in 1,5-2 years. At the same time intellectual development of patients with an akhondroplaziya usually remains within norm, there are no mental deviations.

In process of a growing because of a perversion of epifizarny growth of bones with a normal periostalny growth of a bone are thickened, bent, become hilly more and more. Because of the increased elasticity of epifizarny and metafizarny departments of tubular bones there are varusny deformations of extremities which are quickly progressing at early loading. The curvature is even more aggravated owing to excessive draft of well developed muscles and considerable mass of normally developing trunk. Because of violation of a normal axis of extremities at patients with an akhondroplaziya ploskovalgusny feet are formed, knee joints become stirred up.

There is a number of deformations, characteristic of an akhondroplaziya. Femurs are bent and twisted inside in the lower departments. Because of the uneven growth of bones of a shin the low-tibial bone in the top department "moves forward" up and ceases to be jointed with tibial, and in lower "warps" a fork of an ankle joint. As a result the ankle joint is developed by 10-15 degrees inside, foot goes to the provision of a supination at an angle of 10-20 degrees. The top extremities are also bent, especially in forearms. Shortening of the top extremities remains, however at adult patients with an akhondroplaziya fingers reach not a navel any more, and an inguinal fold.

At adult patients the deficiency of growth caused generally is noted by shortening of the lower extremities. Average height of women makes 124 cm, men – 131 cm. Remain and even become more expressed changes of the head and a facial skeleton: the increased brain part of a skull, the acting and hanging forehead, a deep nose bridge, visible violation of a bite. Squint is possible. Patients with an akhondroplaziya are inclined to obesity. Because of the made narrower nasal courses at them average otitises often develop, conductive relative deafness is formed. Because of obstruction of the top airways signs of respiratory insufficiency can come to light.

At an akhondroplaziya narrowing of the spinal channel is rather often observed. Usually it arises in lumbar, is more rare – in cervical or chest department of a backbone. It can be shown by sensitivity violations, paresteziya and leg pains. In hard cases malfunction of pelvic bodies, paresis and paralyzes is possible.


Diagnosis an akhondroplaziya is made by the children's orthopedist, does not cause difficulties because of characteristic appearance and proportions of a body of the patient. All children are in detail examined to estimate degree of deviations from normal development of a skeleton, data enter in the table. This table is regularly supplemented in process of growth of the child, and the data entered in it are compared to the standard table which is specially made for patients with an akhondroplaziya. For assessment of a condition of various bodies and systems comprehensive examination is conducted, consultations of various experts are appointed. For an exception of hydrocephaly of newborn children with an akhondroplaziya the neurosurgeon examines, at suspicion of hydrocephaly MRT of a brain or more available computer tomography is appointed. For studying of a condition of the nasal courses and ENT organs of patients with an akhondroplaziya direct to consultation to the otolaryngologist. Consultation of the pulmonologist can be also required.

At a skull X-ray analysis at patients with an akhondroplaziya the disproportion between a front and brain part comes to light. The occipital opening is reduced in a size, the lower jaw and bones of the arch of a skull are increased. The Turkish saddle has the characteristic bashmakoobrazny form and the flat, extended basis. The thorax X-ray analysis at an akhondroplaziya usually without changes, in some cases a breast is given forward and is a little bent. The thickening of edges and their deformation in the field of transition to cartilaginous arches is possible. Sometimes there are no normal anatomic bends of clavicles.

In pictures of a backbone of patients with an akhondroplaziya of rough changes, as a rule, also does not come to light, physiological bends are expressed more weakly, than at healthy people, at the same time can come to light lumbar . The X-ray analysis of a basin demonstrates change of the size and a shape of wings of podvzdoshny bones – they have a rectangular shape, are developed and shortened. Also horizontal arrangement of a roof of vertluzhny hollows is defined.

At a X-ray analysis of tubular bones at patients with an akhondroplaziya shortening and thinning of a diaphysis, a thickening and scyphoid expansion of metafiz comes to light. Epifiza are shipped in metafiza as hinges. On a X-ray analysis of joints deformation and incongruence of articulate surfaces, expansion of articulate cracks and violation of a form of epifiz are visible. Roentgenograms of a knee joint of patients with an akhondroplaziya confirm lengthening of a low-tibial bone, at a X-ray analysis of an ankle joint rotation and a supination is defined.

Treatment of an akhondroplaziya

Full treatment of patients by forces of modern orthopedics is still impossible. Attempts to carry out treatment with growth hormone use were made, however it was not succeeded to receive the authentic evidence of efficiency of this technique at an akhondroplaziya. At early age the conservative therapy directed to strengthening of muscles and prevention of deformation of extremities is carried out. Sick with an akhondroplaziya appoint LFK, massage, recommend to wear special orthopedic shoes etc. Prevention of obesity is carried out.

Surgical interventions at an akhondroplaziya are shown at the expressed deformations of extremities and narrowing of the spinal channel. For correction of deformations the osteotomiya, for elimination of a spinal stenosis – a laminektomiya is carried out. In some cases operations for increase in growth are also carried out. Lengthening of extremities at an akhondroplaziya is usually carried out cross, to two stages: at first the hip on the one hand and a shin with another is extended, then surgeries on the remained segments are carried out.

Akhondroplaziya - treatment should be carried out only under the supervision of a doctor. Self-treatment is unacceptable!!!

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