Saldino-Noonan Syndrome

Saldino -Noonan syndrome is an inherited chest dysplasia that is usually fatal. Defects in the internal organs usually occur as side effects. The small lung volume of the patients can be surgically enlarged in exceptional cases.

Saldino-Noonan Syndrome

What is Saldino-Noonan Syndrome?

Saldino -Noonan syndrome is an inherited thoracic skeletal dysplasia. It belongs to the short-rib polydactyly syndromes and corresponds to type 1 within this clinical picture. All types in this group are characterized by dysplasia of the ribs and underdeveloped lungs. The respiratory failure in this disease is inevitably related to the genetic underdevelopment of the thorax. See wholevehicles for What are the Meanings of Hypogammaglobulinemia.

Therefore, this form of insufficiency is also referred to as thoracic insufficiency syndrome. The short-rib polydactyly syndrome occurs in a total of seven different types, which differ in morphological and radiological criteria. In addition to the Saldino-Noonan syndrome, the international classification includes only three other types: the Majewski, the Verma-Naumoff – and the Beemer-Langer syndrome. Radiologist Ronald Saldino and geneticist Charles Noonan first described Saldino-Noonan syndrome in the United States during the 1970s.


All types of short-rib polydactyly syndrome are inherited in an autosomal recessive manner. This means that if the disease is present on a recessive allele in one of the two partners, it must also be recessive in the second partner in order for it to be passed on. If only one of the two recessive alleles carries the defect, the intact allele overrides the defect in the other. So far, there is no definitive incidence for the probably extremely rare Saldino-Noonan syndrome.

However, this type of short-rib polydactyly syndrome is considered to be less common than, for example, the Verma-Naumoff type. The localization of the defect-carrying alleles has also not yet been conclusively clarified. This distinguishes the current state of research on Saldino-Noonan syndrome from other short-rib polydactylies such as Jeune syndrome, for which the causative gene has already been located in at least one subgroup. As in all autosomal recessive diseases, the recessive carrier allele probably arises as part of a mutation.

Symptoms, Ailments & Signs

Short ribs with hypoplasia of the thorax are the cardinal symptom of Saldino-Noonan syndrome. The lungs are underdeveloped from birth because of the minimal space available, resulting in thoracic respiratory insufficiency. The long bones are shortened or at least deformed. As a rule, there is also polydactyly, i.e. four-fingeredness.

The dysplasias of the finger skeleton occur frequently in all forms of short-rib polydactyly and are therefore included in the group designation. The root of the nose is usually sunken in those affected by Saldino-Noonan syndrome. Sometimes there is a cleft lip and palate and the chin is small. The amount of amniotic fluid at birth is usually below the norm of 200 to 500 milliliters, so it can be called oligohydramnios.

Often the internal organs are also affected by defects. Complicated heart defects are just as common as a short bowel, malformations of the rectum or harmful bowel movements. The esophagus is partially interrupted and the epiglottis, kidneys, or genitals are malformed.

Diagnosis & course of disease

Diagnosis of Saldino-Noonan syndrome can be made immediately after birth via X-ray imaging. The horizontal ribs appear on the X-ray as short and pointed bones with barely ossified long bones. The bone structure is generally amorphous and the blades of the pelvis appear as horizontally running socket roofs on small vertebral bodies with a rounded shape.

The extremities are usually shortened. The diagnosis can usually be made even before birth and can be determined relatively unequivocally using sonography. The course of this disease is unfavorable. As a rule, there is talk of a lethal course. Only in rare cases do those affected survive the first few years. Life expectancy depends largely on the extent of the dysplasia and the accompanying organ insufficiency.


As a rule, Saldino-Noonan syndrome can present with various compilations and complaints. The internal organs in particular are often damaged in this disease, so that under certain circumstances the patient’s life expectancy can be reduced. Those affected suffer from this syndrome primarily from severe underdevelopment of the lungs.

This leads to breathing difficulties and, in severe cases, to respiratory failure. Loss of consciousness can also occur due to insufficient oxygen supply to the internal organs. In some cases, those affected suffer from multiple fingers and are therefore often teased or bullied, especially when they are young. A cleft palate is also common in Saldino-Noonan syndrome and can make eating and drinking much more difficult.

In many cases, the parents and relatives also suffer from the symptoms of Saldino-Noonan syndrome, psychological problems or depression. Furthermore, the syndrome can lead to a heart defect, so that those affected can also die of sudden cardiac death. Since there is no causal treatment for Saldino-Noonan syndrome, only the symptoms are treated. There are no particular complications. The life expectancy of the patient may be significantly negatively affected.

When should you go to the doctor?

Saldino-Noonan syndrome must always be treated by a doctor. In most cases, however, this syndrome leads to the death of the person affected, so that the symptoms can only be alleviated. A complete cure cannot be achieved. A doctor should be consulted if the patient suffers from severe breathing difficulties. These symptoms are manifested by gasping or a blue discoloration of the skin. In some cases, those affected also lose consciousness.

If these symptoms occur, a doctor must be consulted in any case. Furthermore, the doctor should also be consulted if the person concerned suffers from multiple fingers or even has a cleft palate. Since Saldino-Noonan syndrome can also lead to heart problems or heart defects, regular examinations of the heart and internal organs should be carried out to prevent further problems. Psychological counseling can also be useful for Saldino-Noonan syndrome, since parents and relatives in particular often suffer from psychological problems or depression.

Treatment & Therapy

If the patient is suitable and the organ insufficiency makes sense at all, the doctor can suggest a vertically expandable titanium rib prosthesis to treat the Saldino-Noonan syndrome. In this procedure, the narrow rib thorax is surgically widened and straightened with the help of a titanium implant. The titanium rib used for this is extendable and curved. This titanium rod carries several holes in a row, with which the required length can be fixed.

A second operation to lengthen the rod is performed around six months after the first operation. As a rule, the surgeon fixes the rod between the ribs or places the titanium implant between the iliac crest and a rib, thus achieving the lifting effect. In this way, the spine can be straightened indirectly. The straightening of the spine automatically increases the volume in the rib thorax and thus expands the lung volume.

The operation is not suitable for all patients with Saldino-Noonan syndrome because those affected with severe heart defects are unlikely to survive the operation. If the operation can be performed, and if the procedure achieves the desired results, some of the associated dysplasia may also be surgically corrected. Nevertheless, the mortality rate for Saldino-Noonan syndrome remains high and the quality of life low.

Patients typically suffer from an intolerably multiplicity of deformities, bearing various but all vital structures. This means that the probability that all of them can be compensated for without life-threatening consequences is low. The parents of affected children usually receive psychotherapeutic care.


So far, the Saldino-Noonan syndrome can only be prevented insofar as the disease can now be diagnosed during pregnancy using ultrasound. The decision for or against a child with the syndrome is left to the parents.


Affected people with Saldino-Noonan syndrome should do everything they can to improve their well-being. Any activities performed prior to the illness should be rescheduled and resumed. Those affected usually die within the first few months of the disease. For this reason, parents and other family members should inform themselves sufficiently about the disease.

They should seek ongoing psychological counseling so that they learn to deal with the illness and the resulting loss. Those affected must also be informed in good time about the disease and its consequences. The focus is on making the rest of life as pleasant as possible for those affected.

The quality of life should be increased significantly with things that the person concerned likes. The person concerned should also seek permanent psychological counselling. There you can learn how to deal with the disease. It is also possible to learn how those affected can live with the disease in everyday life.

It is also recommended that those affected visit a self-help group. There they can talk to other sick people and do not feel alone with the disease. In addition, new ways of living with the disease can be learned there. Those affected should only stay in places where there is sufficient oxygen. Relatives who smoke should avoid contact with the sick person.

You can do that yourself

Self-help measures in Saldino-Noonan syndrome focus on promoting well-being. In most cases, the disorder ends with the premature death of the patient in the first months or years of life. Parents and relatives should therefore inform themselves sufficiently about the disease and the resulting consequences. The child should be informed as early as possible about the course of the disease and the existing disorder.

The focus is on shaping the common lifetime and measures to optimize the quality of life. In order to strengthen mental strength and reduce emotional stress, all those affected should take part in psychological support. The processes and developments must be processed so that no secondary diseases arise and the relatives can take sufficient care of the child. In addition, psychotherapy strengthens the growing child in everyday life when dealing with the physical and emotional complaints.

The patient’s environment should be enriched with sufficient oxygen. Since the disorder often affects the ability of the lungs to function, avoid environments where there are pollutants in the air. Smoking should therefore be completely avoided in the presence of the patient. Leisure activities are to be geared to the needs and possibilities of the person concerned. The zest for life should be encouraged. In addition, a sense of achievement strengthens the patient ‘s self-confidence.