Adams Oliver Syndrome

Adams Oliver Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Adams Oliver 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

  • Absence Defect of Limbs, Scalp and Skull
  • Congenital Scalp Defects with Distal Limb Reduction Anomalies
  • Aplasia Cutis Congenita with Terminal Transverse Limb Defects

Disorder Subdivisions

  • None

General Discussion

Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with Adams-Oliver syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs. In some cases, additional abnormalities may also be present. Most cases of AOS appear to follow autosomal dominant inheritance but autosomal recessive inheritance has also been reported.

Symptoms

The physical abnormalities associated with Adams-Oliver syndrome vary greatly among affected individuals. While some cases may be very mild, others may be severe. Limb and scalp defects are the most common findings.



Infants with Adams-Oliver syndrome may exhibit one or multiple hairless scarred areas of skin on the scalp. The depth and size (diameter) of the lesions vary greatly from case to case. In some affected individuals, the scalp lesions may become ulcerated or infected. However, in most cases, these skin lesions heal without treatment (spontaneously) within the first few months of life. In some infants with Adams-Oliver syndrome, abnormally wide (dilated) blood vessels may be apparent under the skin lesions. In severe cases, these fragile dilated blood vessels may bleed (hemorrhage).



In severe cases, the scalp and vascular defects described above may be associated with an underlying bone defect, including absence of bone in certain areas of the skull. In very severe cases, certain tissues beneath the skull may become exposed, resulting in increased susceptibility to excessive bleeding (hemorrhage) and/or bacterial infections such as meningitis. The scalp defects associated with Adams-Oliver syndrome resemble aplasia cutis congenita. (For more information on meningitis and aplasia cutis congenita, see the Related Disorders section of this report.)



Infants with Adams-Oliver syndrome also exhibit malformations of the fingers, toes, hands, and/or feet. Some affected infants may have abnormally short fingers and/or toes (digits) due to underdevelopment (hypoplasia) or absence of certain bones in the hands and/or feet (metacarpals and/or phalanges [terminal]). In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent. Affected individuals may also have webbing of toes (syndactyly) and underdeveloped (hypoplastic) toenails. In general, the lower extremities (i.e., lower legs, feet, and toes) are more severely affected.



Approximately 20 percent of infants with Adams-Oliver syndrome may have an associated heart defect that is present at birth (congenital heart defect) such as ventricular septal defects (VSDs). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood away from the left ventricle to the rest of the body. A VSD may occur in any portion of the ventricular septum. The size and location of the defect determine the severity of the symptoms. A small ventricular septal defect may close on its own (spontaneously) or become less significant as the child matures and grows. A moderately-sized defect may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body (congestive heart failure). Symptoms associated with heart failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), failure to grow at the expected rate (failure to thrive), and/or other findings.



Additional congenital heart defects sometimes associated with Adams-Oliver syndrome may include atrial septal defects (ASDs); a double-outlet right ventricle, a condition in which both the aorta (AO) and pulmonary artery (PA) improperly arise from the right ventricle; and a condition known as tetralogy of Fallot. (For more information on this disorder, choose "Tetralogy of Fallot" in the Rare Disease Database.)



Additional findings have been reported in children with Adams-Oliver syndrome including central nervous system abnormalities and high blood pressure of the main artery of the lungs (pulmonary hypertension). In some cases, affected children also develop a disorder known as cutis marmorata telangiectatica congenita (CMTC). (For more information on CMTC, see the Related Disorders section of this report).

Causes

Most cases of AOS appear to follow autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular 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. The risk is the same for males and females.



The physical findings associated with Adams-Oliver syndrome (e.g, scalp defects and abnormalities of the fingers, toes, arms, and/or legs) may vary greatly in severity from case to case (variable expressivity). In addition, all of the characteristics associated with this disorder may not be manifested in all those who inherit the gene (incomplete penetrance).



Autosomal recessive inheritance has also been reported. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one 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 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.



Some researchers believe that the physical characteristics associated with Adams-Oliver syndrome may be the result of interrupted blood flow through certain arteries during fetal development. The term "Subclavian Artery Supply Disruption Sequence (SASDS)" has been suggested for a group of developmental disorders that may occur due to disruption of blood flow through certain arteries (i.e., subclavian artery, vertebral artery, and/or various arterial branches) during fetal development. These disorders include Poland syndrome, Klippel-Feil syndrome, Moebius syndrome, and Sprengel deformity.

Affected Populations

Adams-Oliver syndrome is an extremely rare disorder that appears to affect males and females in equal numbers. More than 125 affected individuals have been reported in the medical literature. The major physical features of Adams-Oliver syndrome (i.e., scalp defects and limb abnormalities) are apparent at birth (congenital).

Standard Therapies

Diagnosis

The diagnosis of Adams-Oliver syndrome may be suspected at birth based upon the identification of characteristic scalp and skull defects occurring in association with malformations of the fingers, toes, hands, and/or feet. The diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests, such as advanced imaging techniques. In some cases, it may be possible to detect defects of the skull and/or limbs before birth (prenatally) through the use of advanced imaging techniques such as ultrasound. During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus.



Treatment

The treatment of Adams-Oliver syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic and plastic surgeons, cardiologists, physical therapists, and other health care professionals may need to systematically, and comprehensively plan an affected child's treatment.



In many cases, scalp defects may heal without treatment (spontaneously) within the first few months of life. Skin grafting, cranial surgery, and/or other surgical procedures may be required for affected individuals who exhibit underlying defects of the bones of the skull. In addition, physicians may recommend that some affected children wear helmets in order to prevent trauma to the head and potential damage to abnormally wide (dilated) blood vessels.



Physical therapy, surgery, and/or the use of artificial limbs (prostheses) may be recommended for children who exhibit partial or complete absence of fingers, toes, hands, feet, and/or lower legs.



In addition, affected children should receive a complete medical evaluation for heart (cardiac) abnormalities that are sometimes associated with this Adams-Oliver syndrome.



Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive regular clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with Adams-Oliver syndrome. Other treatment for this disorder 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 website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

References

TEXTBOOKS

Beford HM, Teebi AS. Adams-Oliver Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:148.



Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:314.



Champion RH, Burton JL, Ebling FJG, eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:519-22.



Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1056



JOURNAL ARTICLES

Patel MS, Taylor GP, Bharya S, et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet. 2004;129A:294-9.



Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? Am J Med Genet. 2004;130A:172-5.



Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet. 2003;11:457-63.



Beekmans SJ, Wiebe MJ. Surgical treatment of aplasia cutis in the Adams-Oliver syndrome. J Craniofac Surg. 2001;12:569-72.



Unay B, Sarici SU, Gül D, Akin R, Gökçay E. Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. Clin Dysmorphol. 2001;10:223-5.



Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet. 1995;47:80-4.



Bamforth JS, Kaurah P, Byrne J, Ferreira P. Adams Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet. 1994;49:393-6.



Dyall-Smith D, Ramsden A, Laurie S. Adams-Oliver syndrome: aplastia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. Australas J Dermatol. 1994;35:19-22.



Frank RA, Frosch PJ. Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies. Dermatology. 1993;187:205-8.



Chitayat D, Meunier C, Hodgkinson KA, Robb L, Azouz M. Acrania: a manifestation of the Adams-Oliver syndrome. Am J Med Genet. 1992;44:562-6.



Bork K, Pfeifle J. Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. Br J Dermatol. 1992;127:160-3.



Arand AG, Ball WS, Crone KR. Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature. Pediatr Neurosurg. 1991-92;17:203-7.



Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet. 1991;40:319-26.



David A, Rozé JC, Melon-David V. Adams-Oliver syndrome associated with congenital heart defect: not a coincidence (letter). Am J Med Genet. 1991;40:126-7.



Jaeggi E, Kind C, Morger R. Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases. Eur J Pediatr. 1990;149:565-6.



Küster W, Lenz W, Kääriäinen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet. 1988;31:99-115.



Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? Am J Med Genet. 1988;29:269-76.



Koiffmann CP, Wajntal A, Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - - Mckusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet. 1988;29:263-8.



INTERNET

McKusick, VA, ed. Online Mendelian Inehritance in Man (OMIM). Johns Hopkins University, Last Edit Date 9/19/08, Entry Number 100300; Last Edit Date 7/6/95, Entry Number 219250; Last Edit Date 6/12/96, Entry Number 132000.

Resources

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

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USA

Tel: (301)495-4484

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Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

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



Adams Oliver Syndrome Support Group

14 College View

Connah's Quay

Deeside, CH5 4BY

United Kingdom

Tel: 01244816209

Email: sandy.ivins@btinternet.com

Internet: http://www.aosupport.org/



Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814

USA

Tel: (407)895-0802

Email: staff@birthdefects.org

Internet: http://www.birthdefects.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.

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