Escobar Syndrome: September 2010

Wednesday, September 1, 2010

Langenstein Family

In February of 2006, my husband and I flew to Russia to adopt our beautiful little girl Maria Elizabeth, whom we call Masha in accordance with Russian custom. Masha had just turned four yrs old and was to be our fourth child -- our second by adoption. We had already met Masha, but the medical information we had been given by her orphanage was sketchy. We knew she was very small for her age, that she hadvery serious scoliosis, that many of her joints didn't move well, and that she a repaired cleft palate. It wasn't until we arrived home with Masha and saw a geneticist at St. Louis Children's Hospital that we were able to receive a diagnosis: Multiple Pterygium Syndrome, Escobar variant

Masha has had several surgeries and has been outfitted with several different titanium devices to straighten her spine & joints, most importantly VEPTR's to correct her scoliosis. We often joke that she is our bionic kid! Despite her physical challenges, however, Masha is a sweet, happy, fun loving child! She is eight and half years old now, and takes ballet, art, and piano lessons. She LOVES her schoolwork and studies hard. In her down time she draws, sings, and plays with her sisters. We wouldn't change a thing about her!

If you'd like to discuss Masha, adoption, VEPTR, Multiple Pterygium Syndrome (or anything else!) with me, feel free to contact me via Facebook or email: conventof6@yahoo.com

Sharee Langenstein

Rudder Family

We have 3 children......Collin-6 yrs old (born in 2004), Haley-4 yrs old (born in 2006), and Mason-2 yrs old (born in 2008). Like many others, we were initially told a diagnosis of Trisomy 18. Haley and Mason have since both been diagnosed with Escobar syndrome. When Haley was 10 months old we got a possible diagnosis from Dr. Hall in Seattle, WA and tests done in Oxford, England confirming Escobar when she was 1 1/2 yrs old. The exact results noted a single nucleotide insertion at position 392 in the gene (c. 392insA) per Oxford on Haley and homozygous duplication c. 459dupA per the clinical lab results in the USA for Mason. This was also confirmed in both my husband and I as carriers in Oxford.

Some ways that our children are affected by Escobar is vertical talus, scoliosis, camptodactyly (clenched fists), knee flexion contractures, eventration of the diaphragm, tethered spinal cords, submoucal cleft palate, and hip dislocations. Although skin webbing is a component of escobar, our children have very minimal webbing mainly in the neck and underarms.

Haley and Mason are both doing wonderfully, although it's been a long, hard road to get where we are today. They are happy, social, and determined to succeed. Haley does gymnastics and played her first season of t-ball this year. Mason is figuring out walking in his new Kidwalk and loving his independence. We are very happy to share with other families affected by Escobar and related syndromes. We love to meet new people and willing to help in anyway we can. To read more about Haley & Mason's journey you can visit their blog at http://www.rudderfamily.blogspot.com/ and if you would like to contact us you can email at SRRudder5@gmail.com

George & Suzanne Rudder

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Active Research

Escobar Syndrome Research Study
Prinicpal Investigator
Karen W. Gripp, M.D.
Division of Genetics,
Nemours/Alfred I duPont Hospital for Children, Wilmington DE
Phone: (302) 651-5916
Fax: (302) 651-5033
E-mail: kgripp@nemours.org

Our research study “Genotype influences on clinical outcomes in arthrogryposis with webbing – Escobar Syndrome” is recruiting new participants.
We are recruiting individuals with a clinical diagnosis of Escobar, arthrygryposis with webbing, or multiple pterygium syndrome, and their biological parents. The purpose of the study is to learn more about Escobar syndrome and to investigate its genetic cause.

If any families would like more information or would like to enroll in our study,
please contact Stacey Koletty, RN, our study coordinator at skoletty@nemours.org or 302-651-6548.

Additional study information may be found at
http://www.nemours.org/research/clinicaltrial.html

Raising Awareness

In an effort to raise awareness for research and funding for Escobar Syndrome, I ask you to join in a letter writing campaign. Ask all your family members and friends to take the time to write as well. One handwritten/mailed letter is equivalent to 60 email messages! Together, we can raise awareness and make a difference. Below is an example letter to your Senator that you can personalize and edit to address any branch of the legislature or organization you choose to contact.

Example Letter

What is Multiple Pterygium Syndrome - Escobar variant?

A rare condition manifested by orthopaedic and cranial anomalies. Characteristic features include short stature, craniofacial anomalies, joint contractures, verebral fusion anomalies, rocker-bottom feet (vertical talus), and pterygia (skin webbing) of the neck, elbows, fingers, knees, and genital areas. Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, low-set ears, pointed and receding chin, ptosis, down-turned angles of the mouth, cleft lip and/or palate, and hemangiomas (red birthmark) of the forehead. Associated anomalies may include rib defects, scoliosis or lordosis, cryptorchism, hypoplastic labia majora. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include radial head and hip dislocations, club foot, and missing or underdeveloped kneecap.

Multiple Pterygium can be lethal, however, the non-lethal variant is known as Escobar Syndrome.

Causes

Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance. Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Standard Therapies

Therapy is supportive and depends on the severity of the webbing and spinal abnormalities. Orthopedic specialists should be consulted once a diagnosis is made because scoliosis develops before age five in most patients. Affected individuals have an increased risk for developing pneumonia due to a small rib cage so respiratory infections should be treated promptly. Patients with multiple pterygium syndrome may benefit from plastic surgery in the areas of webbing. This must be done with extreme caution as there may be major nerves and blood vessels in the area that are too short to allow for full extension of the limbs. Plastic surgery may also be performed to improve fused fingers and correct the cleft palate when present. Physical therapy can be of benefit to help in preventing the joints from becoming fixed.

Drooping eyelids can interfere with vision so an ophthalmology specialist should be consulted. Hearing testing should be done because of an increased risk for conductive hearing loss.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com