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Pena-Shokeir Syndrome, Type I
Monday, 06 September 2004
Monday, 06 September 2004
Pena-Shokeir phenotype, fetal akinesia deformation sequence


Pena-Shokeir syndrome Type I is a rare disease. This syndrome causes contractures of the joints (arthrogryposis), growth problems, lungs that are underdeveloped, and abnormalities of facial features. Pena-Shokeir syndrome is often categorized as a type of “Arthrogryposis Multiplex Congenita.” This is a group of similar syndromes in which individuals are born with multiple joint contractures. Pena-Shokeir Type II is a separate disorder that not only is characterized by facial and skeletal abnormalities but also eye disorders.


The actual incidence of Pena-Shokeir syndrome Type I is not known, but about 80 to 100 cases have been reported in the medical literature. This syndrome occurs in males and females, and it does not have any specific ethnic group association. Both sporadic and familial (inherited in families) cases have been reported.

Signs and Symptoms

Individuals with Pena-Shokeir syndrome Type I may have few or many of the signs and symptoms listed below, which also vary in severity. More common features of Pena-Shokeir syndrome:

  • Multiple Arthrogryposes: This means that the joints are contracted in multiple areas of the body. Normally joints have a specified amount of movement possibilities (like flexing, extending, and rotating). Joint contractures mean that the joints stay fixed in certain positions and have much less movement then normal. For instance joints may stay flexed or extended. These contractures can especially occur in areas like the fingers, hands, and feet.
  • There may be restricted growth or general growth difficulties
  • Pena-Shokeir syndrome can also present with facial features like widely spaced eyes, low set malformed ears, a hole in the roof of the mouth (cleft palate), jaw problems, decreased facial expressions, and a head size that is smaller then usual (microcephaly).
  • Pulmonary hypoplasia: This means that the lungs may be underdeveloped. This can cause severe breathing difficulties depending on how underdeveloped the lungs are. Less common features:
  • This syndrome can also be associated with other skeletal system problems, including scoliosis (the backbones are curved more then normal), chest anomalies, and bone fractures.
  • In some individuals, there may be eating and speech problems and defects of other systems in the body, including the heart, the gut (gastrointestinal system), reproductive organs, and adrenal glands.

Possible Causes

The majority of the signs and symptoms seen in Pena-Shokeir syndrome are caused by restricted movement of the fetus during pregnancy. Some time during the first trimester, the fetus is supposed to start moving its body in the amniotic sac. This fetal movement is really important for the development of the joints, bones, muscles, and other tissues of the body. If there is little or no movement of the fetus, the joints can become stiff and the neuro-muscular system will develop abnormally and not function properly. Causes of restricted fetal movement include genetic defects, tissue defects, and environmental causes. • Genetic causes: In some families, Pena-Shokeir syndrome occurs as an autosomal recessive genetic disorder. Individuals with autosomal recessive diseases have two defective copies of the gene causing the disease, one inherited from each parent. Since the parents both have one normal copy and one defective copy, they are not affected; but the two defective copies just happened to be passed on to the affected child. • Tissue defects: Some researchers think that Pena-Shokeir syndrome might be caused by muscle, nerve, or connective tissue disorders. • Environmental causes may also be involved. For example, some mothers of infants with Pena-Shokeir syndrome have been found to have immune system particles that accidentally start disrupting the fetal muscles which can cause decreased muscle movement. The mom may herself have a muscle disease but not know it. • Among all these possibilities, researchers are trying to figure out the most common causes of Pena-Shokeir syndrome Type I.


Pena-Shokeir syndrome is mainly diagnosed based on the signs and symptoms it causes, such as the joint contractures. To check if other areas of the skeletal system are affected, doctors may use imaging procedures such as X-rays and CT Scans. Blood tests can be done to help determine how the lungs are functioning. Doctors may also do genetic testing to evaluate for any chromosome abnormalities that may also lead to similar physical features. During prenatal ultrasound exams, doctors may find abnormalities such as the joint contractures or growth problems in the fetus.


There is no cure currently available for Pena-Shokeir syndrome. One of the main complications of Pena-Skokeir syndrome is severe breathing distress due to the underdeveloped lungs and abnormally working muscles. This complication can require many treatments, including oxygen therapy. In cases where the mother is already known to have certain types of muscle diseases, doctors may prescribe special medications during pregnancy to try to improve the movements of the fetus.


Unfortunately, individuals with Pena-Shokeir syndrome may be born too prematurely or have many complications after birth, which make it difficult to survive past the first few weeks of life. Other individuals may have less severe signs and symptoms. Your doctor can give you more information on the prognosis depending on which signs and symptoms are present. Hopefully, as more information is gained on Pena-Shokeir syndrome and its causes, researchers may find better diagnostic tools and possible treatments.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Orpha Net (Rare diseases website)
This site has a summary on medical information related to Pena-Shokeir syndrome.

Online Mendelian Inheritance in Man (OMIM)
This site summarizes medical information related to Pena-Shokeir syndrome and its history, and has links to medical papers on this syndrome.


Although support groups directly for Pena-Shokeir syndrome were not found, there are some support groups available for the similar group of syndromes, called “Arthrogryposis Multiplex Congenita.”

(AMC) International Birth Defects Information Systems
This site has many links, including educational resources, related to AMC.

National Support Group for AMC
This site also has links related to AMC, including medical professionals specializing in this area and a list of international support groups.

Yahoo Support Group for AMC
Through this online support group, you can contact families with AMC, exchange resources, or simply share your stories.

Google Search for Pena-Shokeir Syndrome, Type I

References and Sources

Online Mendelian Inheritance in Man (OMIM) Orpha Net (Rare diseases website) The Fetus Net E-Medicine: Arthrogryposis