Baller Gerold Syndrome

Baller Gerold Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Baller Gerold Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Craniosynostosis with Radial Defects
  • Craniosynostosis-Radial Aplasia Syndrome

Disorder Subdivisions

  • None

General Discussion

Baller-Gerold Syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) area and bones of the forearms and hands.



In infants with Baller-Gerold Syndrome, there is premature fusion of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis). As a result, the head may appear unusually short and wide and/or pointed at the top (turribrachycephaly) or relatively triangular in shape (trigonocephaly). Affected infants may also have a prominent forehead; downslanting eyelid folds (palpebral fissures), small, malformed (dysplastic), low-set ears, and/or other craniofacial abnormalities. Baller-Gerold Syndrome is also characterized by underdevelopment (hypoplasia) or absence (aplasia) of the bone on the thumb side of the forearms (radii). In addition, the bone on the "pinky" side of the forearms (ulnae) is unusually short and curved and the thumbs may be underdeveloped or absent. In some cases, additional physical abnormalities and/or mental retardation may also be present. Baller-Gerold Syndrome is thought to be inherited as an autosomal recessive trait.

Symptoms

Patients with Baller-Gerold syndrome are born with premature closure of the joints or seams (sutures) of the skull causing an upward growth of the head giving it a pointed or cone-shaped appearance. The large bone of the forearm on the opposite side of the thumb (ulnar) is short and curved and the short bone of the forearm on the thumb side (radius) is underdeveloped or missing.



Most patients with Baller-Gerold syndrome are very short and have a nasal bridge that is high. They also have a prominent lower jaw.



Hearing loss, absent or underdeveloped thumbs and bones of the hand, abnormalities of the pelvis and spine, a vertical fold of skin over the inner corner of the eye (epicanthal folds), eyes that are set close together, small abnormally developed ears, skin that sheds and/or mental or motor delay may also be present.



Problems with fine motor skills may be present due to the deformities of the hands and arms.

Causes

Baller-Gerold syndrome is caused, in most cases, by a malfunctioning (mutated) gene that has been tracked to a particular site on chromosome 8 known as 8q24.3. Some cases of BGS are the result of an unexpected, spontaneous mutation the cause of which cannot be attributed to the parental transmission (sporadic). In all cases the trait is transmitted by an autosomal recessive inheritance pattern. The responsible gene on chromosome 8 is known as the RECQL4 gene.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, 'chromosome 8q24.3" refers to band 24.3 on the long arm of chromosome 8. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



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 percent with each pregnancy. The risk to have a child who is a carrier like the parents is 50 percent 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 percent. 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.



Parents of some individuals with Baller-Gerold Syndrome have been closely related by blood (consanguineous). There is at least one report of a child with many of the features of BGS due to the inhalation of sodium valproate, an anti-convulsive medication sometimes used to control epileptic seizures.

Affected Populations

There are too few cases of Baller-Gerold syndrome reported to determine, with any assurance, whether any bias in favor of one gender or another or any preference with regard to ethnicity exists. It is likely that there are between 20 and 30 reported cases.

Standard Therapies

Treatment of Baller-Gerold syndrome involves surgery to relieve pressure inside the skull due to the craniosynostosis. This can be done by separating the bony sections and lining the seams between them with materials to prevent fusion. The younger the patient is at the time of the surgery the better the results.



Surgery to correct other skeletal deformities may be required and physical as well as occupational therapy may also help in the development of fine motor skills.



Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

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.

References

TEXTBOOKS

Temple IK. Baller-Gerold Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:157-58.



Gorlin RJ, Cohen MMJr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, NY; 2001:674.



Jones KL. Ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:430-31.



Castriota-Scanderberg A, Dallapiccola B. Abnormal Skeletal Phenotypes. Springer Verlag. Berlin, Germany. 2005:28, 381.



Stevenson RE, Hall JG. Human Malformations and Related Anomalies. 2nd ed. Oxford University Press, New York, NY. 2006:224.



JOURNAL ARTICLES

Kellermayer R. The versatile RECQL4. Genet Med. 2006;8:213-16.



Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. 2006;232:107-20.



Van Maldergem L. Siitonen HA, Jalkh N, Chouery E, et al. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006;43:148-52.



Seto ML, Lee SJ, Sze RW, Cunningham ML. Another TWIST on Baller-Gerold syndrome. Am J Med Genet. 2001;104:323-30.



Megarbane A, Melki I, Souraty N, Gerbaka J, et al. Overlap between Baller-Gerold and Rothmund-Thomson syndrome. Clin Dysmorphol. 2000;9:303-05.



Quarrell OW, Maltby EL, Harrison CJ. Baller-Gerold syndrome and Fanconi anaemia. Am J Med Genet. 75:228-9.



Cohen MM Jr. Toriello HV. Is there a Baller-Gerold syndrome? Am J Med Genet. 1996;61:63-4.



Huson SM, Rodgers CS, Hall CM, Winter RM. The Baller-Gerold syndrome: phenotypic and cytogenic overlap with Roberts syndrome. J Med Genet. 1990;27:371-75.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Baller-Gerold Syndrome. Entry Number; 218600: Last Edit Date; 10/6/2006.



Baller-Gerold syndrome (BGS). Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 2pp.

www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=46

Accessed 10/30/2006



Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 218600; 2/14/99. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218600.



Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Company; 1997:430-431.



Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:469.

Resources

Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240

USA

Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Internet: http://www.ccakids.com



FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



Let's Face It

University of Michigan, School of Dentistry / Dentistry Library

1011 N. University

Ann Arbor, MI 48109-1078

USA

Tel: (360)676-7325

Email: faceit@umich.edu

Internet: http://www.dent.umich.edu/faceit



AmeriFace

P.O. Box 751112

Limekiln, PA 19535

USA

Tel: (702)769-9264

Fax: (702)341-5351

Tel: (888)486-1209

Email: info@ameriface.org

Internet: http://www.ameriface.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW

Wyoming, MI 49509

Tel: (616)329-1335

Email: Rachelmancuso09@comcast.net

Internet: http://www.cleftsmile.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.