Pena-Shokeir Syndrome

Pena Shokeir Syndrome is a serious genetic disease with a variety of malformations of internal and external organs. If the children are born alive, death occurs after a few days or weeks at the latest. The main cause of death is severe pulmonary hypoplasia.

Pena-Shokeir Syndrome

What is Pena Shokeir Syndrome?

Pena Shokeir Syndrome is a very rare, serious disease characterized by underdevelopment of all organs. The syndrome is incompatible with life. Children born alive die within a few weeks at the latest. So far, only about 100 cases have been described. However, it is assumed that it is not a uniform disease. See foodanddrinkjournal for Insertion Tendopathy Dictionary Definitions.

Various genetic defects are suspected, but some of them have not yet been verified. Also, the risk for the offspring to suffer from this disease, if cases have already occurred in the family or relatives, cannot be specified exactly. According to current knowledge, the probability should be between 0.1 and 25 percent. Since the symptoms are very similar to those of trisomy 18, it is also referred to as pseudo-trisomy 18.

Despite the rarity of the disease, a distinction is made between Type I Pena-Shokeir syndrome and Type II Pena-Shokeir syndrome. Type I Pena Shokeir Syndrome is also known as Fetal Akinesia/Hypokinesia Sequence or FADS. The other name of Pena Shokeir syndrome type II is cerebro-oculofacial-skeletal syndrome or COFS syndrome.


The only known cause of Pena Shokeir Syndrome is that it is a hereditary disease. An autosomal recessive inheritance is assumed for both forms. However, since the disease is only characterized by the symptoms, it is not clear whether this applies to all cases or whether spontaneous cases with an autosomal dominant inheritance also occur.

The information on the risk of 0.1 to 25 percent in families in which a case of illness has already occurred shows that there is by no means any certainty about the inheritance. However, chromosomal aberrations can be ruled out. Due to the similarities between Pena Shokeir syndrome type I (FADS) and trisomy 18, chromosome tests are carried out, but in the case of Pena Shokeir syndrome they do not reveal any abnormalities.

Autosomal recessive inheritance is thought to be due to the fact that most cases have occurred in intermarriage and family members often suffer as well. For the COFS syndrome, the second type of Pena Shokeir syndrome, specific genetic defects could be identified, but they were not uniform.

In these cases, the ERCC6/CSB gene on chromosome 10 is usually affected. However, defective genes were also found on chromosome 13 or chromosome 19. A total of four genes that encode enzymes for the same DNA reaction chain can be affected here.

Symptoms, Ailments & Signs

Overall, Pena Shokeir Syndrome causes very serious health impairments that are incompatible with life. Stillbirths are the most common. If the child is born alive anyway, it survives a maximum of a few weeks in Pena Shokeir syndrome type 1. In type 2, death occurs within the first year of life.

Pena-Shokeir syndrome type 1 (FADS) is characterized by pulmonary hypoplasia, multiple joint deformities, and facial abnormalities. The fetus shows greatly reduced motor activities. Because this prevents the fetus from swallowing amniotic fluid, polyhydramnios occurs. Hands and feet are deformed. The patient has small ears. The eye relief is increased.

Sometimes there is also a cleft palate and a heart defect. In most cases the children are born prematurely. However, they are also undersized if they are born on the due date. In addition to pulmonary hypoplasia, surviving children also suffer from short bowel syndrome, which leads to malabsorption.

Only about 20 cases of type 2 Pena-Shokeir syndrome or COFS syndrome have been described to date. In addition to the organ malformations, this disease is characterized by severe neural and sensory disorders. Photosensitivity, sensorineural hearing loss and peripheral neuropathies are also common. Photosensitivity is caused by a defect in the DNA repair system. Death from respiratory infections occurs within the first year of life.

Diagnosis & course of disease

Diagnostically, Pena Shokeir syndrome can be easily distinguished from other diseases with similar symptoms. The similarities with trisomy 18 prompt chromosomal studies. Chromosomal aberrations do not occur in either the FADS syndrome or the COFS syndrome.

While the genetic cause of FADS syndrome is unknown, four genes can be examined in COFS syndrome. The disease can be diagnosed prenatally by ultrasound examinations. The diagnosis is usually based on exclusion criteria.


Due to Pena-Shokeir syndrome, those affected usually suffer from various malformations and deformities. These can also make themselves felt in the internal organs and thus significantly reduce the quality of life and life expectancy of those affected. As a rule, Pena Shokeir syndrome has a very negative effect on the patient’s breathing, which can lead to discomfort and complications.

As a rule, the syndrome always leads to the death of the patient. For this reason, the relatives and parents of the child in particular are dependent on psychological treatment in order to deal with any severe depression and psychological problems that may occur. Complications do not usually occur during psychological treatment. The children themselves also suffer from cleft palate and heart defects.

These can also cause the death of the patient. Sometimes hearing loss and severe deformities of the internal organs occur. Unfortunately, there is no treatment for Pena Shokeir Syndrome. Those affected usually die immediately after birth. Unfortunately, the syndrome cannot be directly prevented either. In most cases, this syndrome does not affect subsequent pregnancies.

When should you go to the doctor?

In the case of Pena Shokeir syndrome, a doctor must be consulted in any case. As a rule, however, the disease cannot be completely cured, so that the born child dies a few days after birth or is already dead. For this reason, in Pena Shokeir syndrome, lifespan can only be increased by a few days if medical treatment is carried out after birth.

However, since the child dies, the parents and relatives should seek psychological advice after this incident in order to avoid possible psychological problems and complications. Contact with friends or other people affected by Pena Shokeir syndrome can also be very helpful. Likewise, if you want to become pregnant again, you should consult a doctor beforehand to clarify the risk of Pena Shokeir syndrome reoccurring in order to avoid another stillbirth. As a rule, the lifespan of the mother is not negatively affected by Pena Shokeir syndrome.

Treatment & Therapy

Unfortunately, treatment of Pena Shokeir syndrome is currently not possible. Surgical measures for short bowel syndrome are not successful, although surgical measures are usually ruled out simply because of the severity of the symptoms.

Outlook & Forecast

With this rare congenital disease, the life expectancy of infants is significantly reduced. Around 30% of sick babies are born dead, while most live-born babies die within a few days to months as a result of their underdeveloped internal organs.

Since this genetically inherited disease currently has no therapy or cure, the chances of improvement of the symptoms are zero. Unfortunately, even complex surgical interventions can usually not completely alleviate the symptoms and pain. After that, the baby is still tied to intensive care so that it can continue to develop for a few more days despite its deformities. Nevertheless, the disease offers no prospect of improvement and thus always ends fatally.

Parents of affected children should consider psychotherapeutic treatment or self-help groups at an early stage in order to be able to process the trauma of losing their baby. If necessary, the treating family doctor can also prescribe sedatives for the parents.

If the affected family wants to have children again after some time, counseling, prenatal screenings and genetic tests would be advisable in order to be able to rule out the syndrome in subsequent children at an early stage. Since the probability of recurrence is between 0.01% and 25%, in the event of a genetic risk, adoption or foster care can be proposed to the couple.


It is also particularly difficult to make predictions about the risk of recurrence of Pena Shokeir syndrome. The syndrome is defined based on the symptoms and the exclusion criteria against other diseases with similar symptoms. In families with cases of this disease, marriages of relatives have been observed frequently. Sometimes there are repeated cases. But that is not generally the case.

Nevertheless, when the syndrome occurs, human genetic examinations and counseling should be carried out. Many authors assume that the inheritance is autosomal recessive. However, since there are no known genetic defects in FADS syndrome, a recurrence probability of 0.1 to 25 percent is given. The 0.1 percent would speak for spontaneously occurring mutations with an autosomal dominant inheritance.


In the case of Pena Shokeir syndrome, the options for follow-up care are severely limited in most cases. The person concerned should consult a doctor at the first signs and symptoms of the syndrome in the child. However, complete healing is usually not possible. If you want to have children again, a genetic examination and counseling should be carried out with Pena Shokeir syndrome so that the syndrome cannot recur in the children.

The life expectancy of the children is considerably reduced and limited by this syndrome. Most parents and relatives are dependent on intensive psychological treatment for this disease to prevent further complications and symptoms. Loving and intensive conversations with one’s own family or friends are also useful in order to prevent depression or other mental upsets.

If the child survives the birth despite the malformations, intensive surgical interventions are necessary to alleviate the symptoms. The children also depend on intensive care so that they can still develop well despite the many deformities. In general, Pena Shokeir syndrome significantly reduces the life expectancy of the sufferer.

You can do that yourself

Pena Shokeir Syndrome is always fatal for the affected children. The most important self-help measure for parents is to seek therapeutic support at an early stage. Trauma therapy and self-help groups are important pillars in dealing with the loss of the child. If necessary, the family doctor can prescribe tranquilizers or put you in touch with an alternative doctor who can prescribe suitable preparations for the relatives. Basically, general measures such as exercise and a balanced diet help. A completed daily schedule helps to enjoy life again and to overcome the trauma in the long term.

If a new pregnancy is planned after some time, detailed newborn screening should be carried out. This ensures that the child is healthy. In addition, parents should seek genetic advice and consider alternative options if there is an increased risk of Pena Shokeir syndrome recurring. If necessary, an adoption is possible or a foster child can be taken in. Before and after the birth of a sick child, the mother should keep in close contact with the gynecologist. This can explain the course of the disease and thus contribute to a speedy recovery.