Short rib polydactyly syndrome is a collective term for a variety of diverse osteochondrodysplasias that are present in affected individuals at birth. Thus, the short rib polydactyly syndrome is a congenital disease with a genetic background. Typical for the short rib polydactyly syndrome are a shortening of the ribs as well as a hypoplasia of the lungs. As a result of these complaints, short rib polydactyly syndrome is usually fatal for affected individuals at an early age.
What is short rib polydactyly syndrome?
Short-rib polydactyly syndrome is congenital, although the exact frequency of occurrence of the condition has not yet been researched. The inheritance pattern present in short rib polydactyly syndrome is autosomal recessive. In principle, it is possible to diagnose short rib polydactyly syndrome prenatally, showing the typical defects of the skeleton and sometimes underdeveloped lungs. In most cases, however, short rib polydactyly syndrome does not become apparent until after birth in newborn infants. Short rib polydactyly syndrome usually results in death of affected patients, with individuals not reaching an average age. In principle, the underdevelopment of the lungs is decisive for the death of people suffering from short rib polydactyly syndrome. In addition, shortened ribs are evident as part of the syndrome. In addition to the shortening of the ribs, the thorax is usually hypoplastic in short rib polydactyly syndrome. Due to the underdeveloped lungs, the organ is unable to adequately supply the body with blood and oxygen. As a result, patients suffer from respiratory insufficiency. In addition, short rib polydactyly syndrome usually presents with shortening as well as deformation of the long bones. In addition, those suffering from short rib polydactyly syndrome often have polydactyly. In addition, short rib polydactyly syndrome is often associated with abnormalities of the heart, cleft lip and palate, and malformations of the intestines and urinary tract. The esophagus, trachea, and epiglottis are also sometimes affected by malformations. The thorax is not only narrowed, but often also preaxially shaped. However, short rib polydactyly syndrome is an umbrella term for numerous different symptoms that share great similarities among themselves. For example, Ellis-van Creveld syndrome and Jeune syndrome are included in short rib polydactyly syndrome. These two disorders are usually not fatal. In contrast, Majewski syndrome, Saldino-Noonan chondrodysplasia, Beemer-Langer syndrome, and Verma-Naumoff syndrome are usually lethal. In addition, Yang syndrome and Le-Marec syndrome exist.
Causes
Short-rib polydactyly syndrome develops as a result of genetic mutations, with an autosomal recessive mode of inheritance. Whether short-rib polydactyly syndrome predominates in female or male patients is not precisely known. However, in principle, short rib polydactyly syndrome is congenital, so there is no possibility of influencing the pathogenesis.
Symptoms, complaints, and signs
The term short-rib polydactyly syndrome is used to describe numerous congenital disease syndromes that are classified as genetic osteochondrodysplasias. Short rib polydactyly syndrome is often characterized by a lethal outcome. Typical for most syndromes is an underdevelopment of the lungs in combination with a shortening of the ribs. Depending on the syndrome, other symptoms may be present. The thorax is usually underdeveloped in short rib polydactyly syndrome. Patients suffer from marked respiratory insufficiency as a result of hypoplastic lungs, which is a common cause of death. In some cases, individuals affected with short rib polydactyly syndrome have a flat nose, a lateral cleft in the lip, and bulges on the skull. Sometimes the back of the patient’s head is strikingly flat.
Diagnosis and course of the disease
A diagnosis of short rib polydactyly syndrome is made by a specialist in hereditary diseases. In addition, a diagnosis may be made at a medical institute specializing in inherited skeletal defects. Diagnosis usually takes place in newborn or infant patients, so that the parents are present during the anamnesis and subsequent clinical examinations.They also assist the physician with the family history, because a clustered occurrence of short rib polydactyly syndrome within families is possible. During the clinical examination of short rib polydactyly syndrome, the physician uses imaging techniques to closely examine the skeletal abnormalities. He also analyzes the development of the lungs. By means of lung function tests, the specialist detects the efficiency of the organ and may be able to give a prognosis. When diagnosing short rib polydactyly syndrome, it is important to identify the exact syndrome. In doing so, the physician examines the patient for signs of Majewski syndrome and Saldino-Noonan syndrome, for example.
Complications
Short rib polydactyly syndrome can lead to a wide variety of conditions. For this reason, it is usually not possible to make a general prediction about the further course and complications of this disease. These depend strongly on the respective syndromes and can lead to various restrictions in life. However, those affected by the short rib polydactyly syndrome usually suffer from complaints of the lungs. It is not uncommon to experience shortness of breath or shortness of breath. The internal organs in particular can be severely damaged by an undersupply of oxygen, resulting in irreversible consequential damage. The short rib polydactyly syndrome also leads to permanent fatigue and exhaustion of the patient. Those affected also suffer from a reduced ability to cope with stress. It is not uncommon for short rib polydactyly syndrome to cause deformities of the ribs, resulting in a crooked posture of the patient, which can have a very negative effect on the quality of life. As a rule, it is not possible to treat short rib polydactyly syndrome causally. Therefore, the treatment is based on the symptoms and aims at their limitation. As a rule, no complications occur. However, a complete cure is not possible in most cases.
When should you go to the doctor?
After an inpatient delivery, obstetricians and pediatricians perform various examinations and tests in a routine procedure to determine the health of the newborn. Within this procedure, the signs of short rib polydactyly syndrome are usually noticed by the trained staff. Many infants have cleft lip and palate in addition to the skeletal system irregularities, so immediate medical treatment is initiated. In addition, the infant’s respiratory activity is impaired and analyzed. In these cases, the relatives do not have to take action on their own due to the presence of the professional staff. In the case of a home birth, the midwife or the outpatient obstetric team takes over the initial anamnesis. If there are any discrepancies, they also independently initiate the necessary measures and contact a physician. This is followed by a rapid inpatient admission so that the child can receive adequate medical care. If a sudden birth occurs without the presence of a medical nurse, a visit to the doctor is always necessary immediately after the birth. In case of visual abnormalities of the skeletal system, problems with respiratory activity or other irregularities, an emergency medical service should be alerted. Until their arrival, first aid measures must be taken so that the newborn does not suffocate. The ribs and the back of the head in particular show worrying changes and cannot be overlooked. The ribs are shortened and the back of the head is flat.
Treatment and therapy
Treatment of short rib polydactyly syndrome focuses solely on the symptoms, as a causative cure for the condition has not been practical to date. The individual symptoms of the patient with short rib polydactyly syndrome are the primary focus. The defects of the skeleton can be partially corrected in some individuals by means of surgical intervention. The therapy of underdeveloped lungs is more difficult. Often there is no permanently effective treatment option here, so that numerous patients die as a result of the short rib polydactyly syndrome. However, this does not apply to forms of the disease without a fundamentally lethal course. In non-lethal forms of short-rib polydactyly syndrome, adequate therapy contributes significantly to the patient’s quality of life.
Outlook and prognosis
The term “short rib polydactyly syndrome” summarizes a whole series of hereditary skeletal disorders. These manifest themselves already after birth or prenatally. Some diseases of this syndrome are lethal, but others are not. The prognosis for the different diseases, which are summarized here, is therefore different good or bad. The shortening of the ribs and the hypoplasia of the lungs are responsible for a lethal course of the short rib polydactyly syndrome already at a young age. Nowadays, the defects of the skeleton – sometimes also the atrophied lung lobes – can already be detected during pregnancy diagnostics. However, it is problematic that the lung damage usually only becomes apparent after birth. Lung damage is also the reason why affected babies die after only a few weeks or months. The prognosis for affected infants is so poor primarily because the underdeveloped lungs in short rib polydactyly syndrome are unable to supply the organism with sufficient oxygen. In addition to the two eponymous lesions of short rib polydactyly syndrome, the infants may also have other lesions on the body. Often, irreversible secondary damage develops early in the conditions grouped together as short rib polydactyly syndrome. Diagnosis of short rib polydactyly syndrome must carefully distinguish which form of the disease is present in each case. Survival prognosis for short rib polydactyly syndrome syndromes is better only in Ellis-van Creveld syndrome as well as Jeune syndrome.
Prevention
To date, physicians have not been able to effectively prevent short rib polydactyly syndrome. The causes of the disease’s development lie in mutations of genes, so no preventive measures are currently feasible. However, research is underway to prevent congenital defects such as short rib polydactyly syndrome. Currently, only prenatal diagnosis of short-rib polydactyly syndrome is possible, and doctors can detect underdevelopment of the lungs and shortening of the ribs.
Follow-up
There are usually few, if any, special measures of aftercare available to the affected person in short rib polydactyly syndrome. With this condition, a physician should be consulted early to prevent further complications and discomfort. An early diagnosis usually has a very positive effect on the further course of the syndrome and can also prevent a further worsening of the symptoms. In this form of the disease, there is usually no independent cure. In most cases, the symptoms of short rib polydactyly syndrome are treated by various surgical procedures. The affected person should maintain strict bed rest and take care of his body after these interventions. Efforts, physical and stressful activities should be refrained from in order not to continue putting unnecessary strain on the body. In many cases, physiotherapy and physiotherapeutic measures can also be used to increase the mobility of the affected person again. In this case, many of the exercises can also be performed in the patient’s own home to continue to alleviate the discomfort. As a rule, short rib polydactyly syndrome usually does not reduce the life expectancy of the affected person.
Here’s what you can do yourself
Depending on the form and severity of short rib polydactyly syndrome, different symptoms and complaints occur. Medical therapy as well as self-help measures must be individually tailored to alleviate these symptoms and to go through treatment without complications. Underdeveloped lungs can be compensated to a limited extent by sports and physiotherapy. In order not to overload the organ, all sports activities should be done only in consultation with a specialist. The malformation of the ribs can promote a hunchback and is mainly an optical blemish. Children and adolescents in particular need the support of an adult here. Parents should talk to teachers immediately if they are excluded. Attending a self-help group can be an important help for the sufferer, as talking to other sufferers helps to understand and accept the condition. After a surgical intervention using the VEPTR procedure, the patient must initially remain in the hospital for a few days.To prevent postoperative depression from occurring, sufficient opportunities for distraction should be created. Regular visits from friends and relatives are an important emotional support and thus indirectly contribute to recovery.
