All You Need to Know About Chondrodyplasia Punctata of the Rhizomelic Type

The chondrodyplasia punctata of the rhizomelic type belong to the congenital malformations. The disorder is characterized by a noticeable short stature. The life expectancy of the patient is greatly reduced with this disease.

What is rhizomelic type chondrodyplasia punctata?

Chondrodyplasia punctata syndromes are a group of different diseases. All sub-forms are genetically determined diseases with characteristic features. Chondrodyplasia punctata of the rhizomelic type, RCDP for short, was first documented in 1931.

The most noticeable symptoms of the disease are short stature and intellectual disability. The short stature is already clearly recognizable in the newborn after birth. A prenatal diagnosis is possible if there is a known mutation within the family.

Further symptoms of the disease are restricted mobility and a conspicuous appearance. These include reduced hair growth and a flat face with chubby cheeks. According to the current state of science, the disease cannot be cured. The course can be classified as very difficult.

In most cases, patients die within the first decade of life. Due to the poor prognosis, there is often additional care for close relatives. Dealing with the disease is very difficult for everyone involved.

Causes

The cause of chondrodyplasia punctata of the rhizomelic type lies in a genetic defect. This triggers a metabolic disorder of the peroxisomes. Peroxisomes are involved in the construction of various and important cells in the organism. There are 3 types of genetic defect. In most cases there are changes in the PEX7 gene.

The mutation leads to a change in the PTS2 receptor. Type II is associated with a change in the GNPAT gene. This codes for dihydroxyacetone phosphate acyltransferase. In type III there is a change in the AGPS gene. This leads to a modification of the peroxisomal alkyl dihydroxyacetone phosphate synthase.

The present genetic defect is inherited in an autosomal recessive manner. The recessive inheritance pattern means that the disease does not necessarily have to break out even though the genetic defect is present. However, the defect can also be passed on to offspring without the disease breaking out. The probability of the occurrence of chondrodyplasia punctata of the rhizomelic type is given as 1: 100,000.

Symptoms, ailments & signs

One of the symptoms of chondrodyplasia punctata of the rhizomelic type is short stature. A so-called rhizomelic short stature already exists at birth. This manifests itself in shortened upper arms and thighs. The patient has sparse hair and a flat but chubby face. The lenses of both eyes are cloudy.

This leads to a change in eyesight. The patient has an intellectual disability. This is associated with a greatly reduced intelligence. Most patients suffer from scoliosis that is hardly treatable.

The mobility of the joints is severely restricted. This means that the patient is unable to move around on his own or only very inadequately. The physical and psychosocial development is severely delayed. Skin lesions, changes in the vertebrae and a cataract occur.

Diagnosis & course

If there is a genetic mutation in the parents, a prenatal diagnosis is possible. The genetic defect can be determined using prenatal diagnostics. In the other cases, a diagnosis takes place after birth up to toddler age. Imaging procedures such as x-rays show the shortening of the bone and vertebral structure.

Performing a genetic test ultimately reveals the mutation in the affected gene and provides information about the type of gene change that is present. During the course of the disease, there is a deterioration in the state of health. As the child grows, the symptoms worsen. In addition, life expectancy is greatly reduced. Many sick people die in the first decade of life. The most common cause is breathing disorders.

Complications

In most cases, the rhizomelic type of chondrodyplasia punctata leads to a severely reduced life expectancy. Those affected suffer from various malformations and deformations that limit everyday life. There is also a short stature.

The arms and thighs are shortened and the patient suffers from greatly reduced hair growth. Children in particular can become victims of bullying and teasing from the symptoms. Eyesight decreases as the disease progresses, which can lead to complete blindness. The chondrodyplasia punctata of the rhizomelic type also restricts mental development and generally leads to retardation.

The motor development of the patient is also often restricted, so that he does not have to rely on the help of other people in everyday life. It is not uncommon for parents to suffer from chondrodyplasia punctata of the rhizomelic type due to psychological complaints or depression. A causal treatment is not possible.

Because of this, it only relieves symptoms. In most cases, however, death occurs due to difficulty breathing. The necessary therapies can only alleviate the symptoms and pain.

When should you go to the doctor?

People with chondrodyplasia punctata of the rhizomelic type should be closely monitored by a doctor. Parents of affected children should therefore consult a specialist in chondrodyplasia immediately after birth. The doctor can clarify the symptoms and, if necessary, call in other specialists. That being said, you should see a doctor with chondrodyplasia punctata if the symptoms increase or new symptoms appear. If breathing difficulties arise as a result of the typical dysmorphism, the emergency services must be called.

The same applies if accidents occur as a result of the deformities. In later life the child should be introduced to a therapist. The child must be supported by a specialist, especially in the event of noticeable growth retardation. If you have visual problems such as cataracts, it is best to contact your ophthalmologist or a specialist in eye diseases. In general: A person with chondrodyplasia punctata of the rhizomelic type needs support throughout childhood and adolescence and often also in adulthood. It is all the more important to start treatment early.

Treatment & Therapy

There is no known treatment or therapy for Chondrodyplasia punctata, as a cure is not possible according to the current scientific status. The symptoms that occur are treated individually and with the aim of alleviation. Since the disease leads to a very short life expectancy, difficult and lengthy therapeutic measures are avoided when certain measures are taken.

The body is in a weakened state and cannot adequately withstand many treatment methods. Since in most cases death occurs due to breathing disorders, measures are taken in good time to make this journey as pleasant as possible. The disease leads to the fact that the close relatives are exposed to a very high level of stress.

Your entire life is changed by the diagnosis. In addition, the shortened life expectancy of the child creates an emotional challenge that young parents find very difficult to deal with. For this reason, the parents are cared for in parallel with the patient. In order to be able to deal with the situation and the development of the disease, therapeutic measures are offered for all involved.

Outlook & forecast

Chondrodyplasia punctata of the rhizomelic type has an unfavorable prognosis. The enzyme defect is triggered by genetic causes and is considered incurable despite medical progress and the numerous therapeutic options available.

The treatment plan is designed by the doctor to relieve the patient’s existing symptoms. The congenital malformations are individual and largely responsible for the further course of each newborn. In addition to the prospect of little alleviation of the symptoms, the disease also has a high mortality rate. Most patients die within the first decade of their lives due to the severe impairment.

Respiratory disorders are mostly responsible for this. In order to make this path more pleasant, appropriate precautions are taken or interventions are made to prevent unnecessary agony. However, this can only be done if the patient’s state of health allows the necessary steps.

Since a prenatal test already gives the possibility of a diagnosis in the case of the genetic disease, the mother-to-be can initiate an abortion if desired. After the birth, due to the poor prognosis, medical treatment focuses on improving the existing quality of life and extending the average expected life span. Complex therapeutic measures or lengthy methods do not take place due to the lack of success and the newborn.

Prevention

With all syndromes of chondrodyplasia punctata, preventive measures cannot be taken to avoid the disease. Chondrodyplasia punctata is based on a genetic defect. For legal reasons, interventions and changes in human genetics are not permitted.

People with the genetic defect can dispense with fathering biological offspring. This prevents the defective gene from being passed on. In addition, prenatal examinations of the unborn child are possible. These enable the diagnosis of chondrodyplasia punctata in the newborn in the womb.

Aftercare

In most cases of chondrodyplasia punctata of the rhizomelic type, the patient has very few follow-up measures available. The patient is primarily dependent on an early diagnosis of the disease so that there are no further complications. Since this disease is a congenital disease, there is no complete cure.

As a rule, if you want to have children, genetic counseling and testing can also be carried out so that the chondrodyplasia punctata of the rhizomelic type does not recur in the children. The earlier the disease is recognized and treated, the better the further course will usually be. The affected children are permanently dependent on the help and support of their parents in their lives.

Loving care has a positive effect on the course of the disease. Since it can often lead to depression and psychological upset, intensive and loving discussions with the person affected are necessary. Some therapeutic measures can also be carried out in your own home, which makes life easier for the patient. Chondrodyplasia punctata of the rhizomelic type has a very negative effect on the life expectancy of the child.

You can do that yourself

Chondrodyplasia punctata of the rhizomelic type are not considered to be causally treatable; patients cannot take self-help measures to combat the disorder causally. Since it is a serious hereditary disease, genetic counseling is useful for couples in whose families rhizomelic type chondrodyplasia punctata has already occurred. The couples are then informed about the likelihood that the syndrome will manifest in their offspring and what health impairments can be expected in this case.

Expectant parents whose families are affected by this hereditary disease can also be specifically searched for this genetic defect as part of the prenatal diagnosis. If the embryo is diseased, a medically induced abortion can be carried out. Parents who decide to carry the pregnancy to term must be aware that there is a high probability that their child will not reach the age of ten. This circumstance is usually more burdensome for the family members than for the child, to whom the illness cannot be understood due to the often severe mental handicap.

Affected couples should seek psychological help at an early stage. In addition, all organizational measures should be taken during pregnancy that are necessary to integrate the care of a physically and mentally handicapped child into everyday family and work life.