Short Rib Polydactyly Syndrome (SRPS)

Acronyms Medical

The short rib polydactyly syndrome is a collective term for a large number of diverse osteochondrodysplasias that are already present at birth in the affected person. Short-rib polydactyly syndrome is a congenital disease with a genetic background. Short-rib polydactyly syndrome is characterized by shortening of the ribs and hypoplasia of the lungs. As a result of these symptoms, the short-rib polydactyly syndrome usually ends fatally for the affected person.

What is Short Rib Polydactyly Syndrome?

The short-rib polydactyly syndrome arises as a result of genetic mutations, with an autosomal recessive inheritance. It is not exactly known whether the short-rib polydactyly syndrome predominates in female or male patients. See AbbreviationFinder for abbreviations related to SRPS.

Short-rib polydactyly syndrome is congenital, although the exact frequency of occurrence of the disease 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, whereby the typical defects in the skeleton and sometimes also the underdeveloped lungs can be identified.

In most cases, however, short-rib polydactyly syndrome does not appear in newborn infants until after birth. Short-rib polydactyly syndrome usually leads to the death of affected patients, with individuals living below average age. In principle, the underdevelopment of the lungs is decisive for the death of people suffering from short-rib polydactyly syndrome. The syndrome also shows shortened ribs.

In addition to the shortening of the ribs, the thorax is usually also hypoplastic in short-rib polydactyly syndrome. Due to the underdeveloped lungs, the organ is not sufficiently able to supply the body with blood and oxygen. As a result, the patients suffer from respiratory insufficiency. In addition, short-rib polydactyly syndrome usually involves shortening and deformation of the long bones.

In addition, people suffering from short-rib polydactyly syndrome often have polydactyly. In addition, the short-rib polydactyly syndrome is often associated with anomalies of the heart, a cleft lip and palate and malformations of the intestine and the urinary tract. The esophagus, trachea and epiglottis are also sometimes affected by malformations. The thorax is not only narrowed, but often also formed preaxially.

However, short-rib polydactyly syndrome is an umbrella term for numerous different symptoms that are very similar to one another. For example, Ellis-van-Creveld syndrome and Jeune syndrome belong to short-rib polydactyly syndrome. These two diseases are usually not fatal. In contrast, Majewski syndrome, Saldino-Noonan chondrodysplasia, Beemer-Langer syndrome, and Verma-Naumoff syndrome are usually fatal. In addition, there are Yang syndrome and Le Marec syndrome.


The short-rib polydactyly syndrome arises as a result of genetic mutations, with an autosomal recessive inheritance. It is not exactly known whether the short-rib polydactyly syndrome predominates in female or male patients. In principle, however, the short-rib polydactyly syndrome is congenital, so that there is no possibility of influencing the pathogenesis.

Symptoms, Ailments & Signs

The term short rib polydactyly syndrome stands for numerous congenital disease syndromes that are assigned to genetically caused osteochondrodysplasia. The short-rib polydactyly syndrome is often characterized by a lethal outcome. Underdevelopment of the lungs in combination with shortening of the ribs is typical for most syndromes.

Depending on the syndrome present, other symptoms also appear. The chest is usually underdeveloped in short-rib polydactyly syndrome. Patients suffer from severe respiratory failure due to hypoplastic lungs, which is a common cause of death. In some cases, people with short-rib polydactyly syndrome have a flat nose, a lateral cleft lip, and a bulging skull. Sometimes the back of the patient’s head is noticeably flat.

Diagnosis & course of disease

A diagnosis of short-rib polydactyly syndrome is made by a doctor who specializes in hereditary diseases. In addition, a diagnosis in a medical institute for inherited skeletal defects is an option. A diagnosis usually takes place in newborn or child patients, so that the parents are present at the anamnesis and the subsequent clinical examinations.

They also support the doctor with the family history, because it is possible for short-rib polydactyly syndrome to occur more frequently within families. In the clinical evaluation of short-rib polydactyly syndrome, the doctor uses imaging techniques to closely examine the abnormalities in the skeleton. He also analyzes the development of the lungs.

Using a lung function test, the specialist recognizes the performance of the organ and may be able to make a prognosis. When diagnosing short-rib polydactyly syndrome, it is important to identify the exact syndrome. The doctor examines the patient, for example, for signs of Majewski syndrome and Saldino-Noonan syndrome.


Short-rib polydactyly syndrome can lead to many different symptoms. For this reason, it is usually not possible to make a general prediction about the further course and complications of this disease. These depend heavily on the respective syndromes and can lead to various limitations in life. However, those affected by the short-rib polydactyly syndrome are usually associated with complaints of the lungs.

This often leads to shortness of breath or shortness of breath. The internal organs in particular can be severely damaged by a lack of oxygen, resulting in irreversible consequential damage. The short-rib polydactyly syndrome also leads to permanent tiredness and exhaustion in the patient. Those affected also suffer from reduced resilience.

It is not uncommon for malformations of the ribs to occur as a result of the short-rib polydactyly syndrome, resulting in a crooked posture in the patient, which can have a very negative effect on the quality of life. As a rule, it is not possible to treat the short-rib polydactyly syndrome causally. The treatment is therefore based on the symptoms and aims to limit them. Usually there are no complications. In most cases, however, complete healing is not possible.

When should you go to the doctor?

After an in-patient delivery, various examinations and tests are carried out by the obstetricians and pediatricians in a routine procedure to determine the state of health of the newborn. Within this procedure, the signs of the short-rib polydactyly syndrome are usually noticed by the trained staff. Many infants have a cleft lip and palate in addition to the irregularities of the skeletal system, prompting medical attention. In addition, the child’s breathing activity is impaired and is analyzed.

Due to the presence of the specialist staff, the relatives do not have to take action independently in these cases. In the case of a home birth, the midwife or the outpatient obstetric team take over the initial anamnesis. In the event of discrepancies, they also independently initiate the necessary measures and contact a doctor. Rapid inpatient admission follows so that the child can receive adequate medical care. If there is a sudden birth without the presence of a medical nursing staff, a doctor’s visit is generally necessary immediately after the birth.

In the event of visual abnormalities in the skeletal system, respiratory problems or other irregularities, an emergency service should be alerted. Until it arrives, 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 ignored. The ribs are shortened and the back of the head is flat.

Treatment & Therapy

The treatment of short-rib polydactyly syndrome focuses exclusively on the symptoms, since a causal cure for the disease has not yet been practicable. The focus is on the individual complaints of the patient with short-rib polydactyly syndrome. In some people, skeletal defects can be partially corrected through surgery.

The treatment of underdeveloped lungs is more difficult. There is often no permanently effective treatment option here, so that numerous patients die as a result of 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 makes a significant contribution to the patient’s quality of life.

Outlook & Forecast

The term “short-rib polydactyly syndrome” summarizes a whole range of hereditary skeletal disorders. These manifest themselves after birth or before birth. Some diseases of this syndrome are fatal, but others are not. The prognosis for the various diseases that are summarized here varies in terms of whether they are good or bad.

Shortening of the ribs and hypoplasia of the lungs are responsible for the fatal course of short-rib polydactyly syndrome at a young age. The defects in the skeleton – sometimes also the atrophied lungs – can nowadays already be recognized within the framework of pregnancy diagnostics. The problem, however, is that the lung damage usually only becomes apparent after birth.

Lung damage is also the reason why those affected die after just a few weeks or months. The prognosis for the affected infants is particularly poor because the underdeveloped lungs in short-rib polydactyly syndrome are not able to supply the organism with enough oxygen. In addition to the two short-rib polydactyly syndrome lesions that give it its name, infants can also have other lesions on their bodies.

Irreversible consequential damage often occurs early on in the diseases that are summarized as short-rib polydactyly syndrome. The diagnosis of the short rib polydactyly syndrome must carefully distinguish which form of the disease is present. The survival prognosis for short-rib polydactyly syndrome is only better for Ellis-van-Creveld syndrome and Jeune syndrome.


So far, doctors have not been able to effectively prevent short-rib polydactyly syndrome. The causes of the development of the disease lie in mutations in genes, so that no preventive measures can currently be implemented. However, research is working to prevent congenital defects such as short-rib polydactyly syndrome. Currently, only a prenatal diagnosis of short-rib polydactyly syndrome is possible, whereby the doctor recognizes the underdevelopment of the lungs and the shortening of the ribs.


Those affected with short-rib polydactyly syndrome usually have only a few or even no special follow-up measures available. In the case of this disease, a doctor should be consulted at an early stage so that no further complications and symptoms can occur. 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.

This form of the disease usually cannot heal on its own. In most cases, the symptoms of short-rib polydactyly syndrome are treated with various surgical procedures. The affected person should keep a strict bed rest after these procedures and take care of his body. Efforts, physical and stressful activities should be avoided in order not to continue to unnecessarily burden the body.

In many cases, physiotherapy and physiotherapy measures can also be used to increase the mobility of the affected person again. Many of the exercises can also be carried out at home to further alleviate the symptoms. As a rule, the short-rib polydactyly syndrome usually does not reduce the life expectancy of the person affected.

You can do that yourself

Depending on the form and severity of the short-rib polydactyly syndrome, different symptoms and complaints occur. Medical therapy and self-help measures must be individually tailored to alleviate these symptoms and to complete the treatment without complications.

Underdeveloped lungs can be compensated to a limited extent through sport and physiotherapy. In order not to overload the organ, all sporting measures should only be carried out in consultation with a specialist. The malformation of the ribs can promote a hump and is mainly an optical flaw. Children and young people in particular need the support of an adult here. In the event of exclusion, parents should speak to the teachers immediately. Visiting a self-help group can be an important help for the sufferer, since talking to other sufferers helps to understand and accept the suffering.

After a surgical intervention using the VEPTR method, the patient must initially remain in the hospital for a few days. Sufficient opportunities for distraction should be created to prevent postoperative depression. Regular visits from friends and relatives are an important spiritual support and thus indirectly contribute to recovery.