Caudal Regression Syndrome

Caudal Regression Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Caudal Regression 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

  • Caudal Dysplasia
  • Caudal Dysplasia Sequence
  • Sacral Agenesis, Congenital
  • Sacral Regression

Disorder Subdivisions

  • None

General Discussion

Caudal Regression Syndrome is a rare disorder characterized by abnormal development of the lower spine end of the developing fetus. A wide range of abnormalities may occur including partial absence of the tailbone end of the spine causing no apparent symptoms, to extensive abnormalities of the lower vertebrae, pelvis, and spine. Neurological impairment as well as inability to control urination and bowel movements (incontinence) may occur in severe cases.

Symptoms

Caudal Regression Syndrome is characterized by abnormal development of the tail (caudal) end region of the developing fetus. Abnormalities associated with this disorder may include partial absence of the tailbone (Coccyx) end of the spine which usually causes no symptoms, and/or a wide range of developmental abnormalities predominantly involving the lower portion of the body.



Patients with Caudal Regression Syndrome may have some of the following symptoms: absence or underdevelopment of the lower vertebrae, pelvis and/or tailbone at the end of the spine; paralysis or numbness of the legs, an difficulty in controlling bowel movements and urination; dislocation of the hip; joints in a permanently fixed position; underdeveloped muscles; abnormal growth of the thighbone; a clubfoot; intestines that are twisted; defects of the anal and urinary systems; multiple cysts or partial fusion of the kidneys; swelling of the pelvis due to a blockage in the urinary system, displacement of the external sex organs; and/or a defect in which the urinary opening is on the underside of the penis (hypospadias).



Less common abnormalities found in some patients with Caudal Regression Syndrome may be: an abnormal amount of spinal fluid in the head (hydrocephaly); partial or complete absence of the gland that supplies hormones (pituitary gland); cleft palate or lip; an underdeveloped or small lower jaw; a downward displacement of the tongue, defects of the heart; and/or more than the normal number of fingers and/or toes.

Causes

The exact cause of Caudal Regression Syndrome is not known in most cases. Nearly sixteen percent of the patients afflicted with this disorder have had mothers that were diabetic. Autosomal dominant inheritance has been suggested in some cases. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Caudal Regression Syndrome is a rare disorder that affects males and females in equal numbers. It is estimated that Causal Regression Syndrome will appear in about 3 of each 100,000 live births.

Standard Therapies

Caudal Regression Syndrome can be detected in a fetus during the second trimester of pregnancy by ultrasound.



Orthopedic devices may be used to help problems of the hip, back and legs.



Problems such as an imperforate anus, hydrocephaly, cleft palate or lip, and extra fingers or toes can be improved or corrected with surgery.



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

Jones KL., ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, A: W.B. Saunders Co; 1997:635.



Buyse ML., ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: Center for Birth Defects Information Services Inc;1990:296-7.



JOURNAL ARTICLES

Bohring A, et al., Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet. 1999;87:99-114.



Fukada Y, et al., Caudal regression syndrome detected in a fetus with increased nuchal translucency. Acta Obstet Gynecol Scand. 1999;78:655-56.



Hirano H, et al., Caudal regression syndrome: MR appearance. Comput Med Imaging Graph. 1998;22:73-76.



Cama A, et al., Multidisciplinary management of caudal regression syndrome (26 cases). Eur J Pediatr Surg. 1996;6 Suppl 1:44-45.



Nguyen BD, et al., Bone scintigraphy of caudal regression syndrome. Clin Nucl Med. 1996;21:802-04.



Partial Transposition of the Penis and Scrotum with Anterior Urethral Diverticulum in a Child Born with the Caudal Regression Syndrome: A.M. Shanberg, et al.; J Urol (October, 1989, issue 424. Pp. 1060-2.



FROM THE INTERNET

McCusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins Press; Entry No: 600145; Created 10/12/94; Last Edit Date:12/18/96.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Restricted Growth Association

PO Box 5137

Yeovil, BA20 9FF

United Kingdom

Tel: 03001111970

Fax: 03001112454

Email: office@restrictedgrowth.co.uk

Internet: http://www.restrictedgrowth.co.uk



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



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/



For a Complete Report

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