CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0342/03426.txt

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$Unique_ID{BRK03426}
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$Title{Adams-Oliver Syndrome}
$Subject{Adams-Oliver Syndrome Absence Defect of Limbs, Scalp and Skull
Hemimelia and Scalp-Skull Defects Scalp-Skull and Limbs, Absence Defect of
Ectrodactyly (Split-Hand Deformity) Holt-Oram Syndrome (Heart-Hand Syndrome;
Atriodigital Dysplasia) Localized Absence of Skin (Aplasia Cutis Congenita)}
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.

584:
Adams-Oliver Syndrome

** IMPORTANT **
It is possible that the main title of this article (Adams-Oliver
Syndrome) is not the name you expected.  Please check the SYNONYM list to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     Absence Defect of Limbs, Scalp and Skull
     Hemimelia and Scalp-Skull Defects
     Scalp-Skull and Limbs, Absence Defect of

Information on the following disorders can be found in the Related
Disorders section of this report:

     Ectrodactyly (Split-Hand Deformity)
     Holt-Oram Syndrome (Heart-Hand Syndrome; Atriodigital Dysplasia)
     Localized Absence of Skin (Aplasia Cutis Congenita)

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your physician and/or the agencies listed in the "Resources" section
of this report.

Adams-Oliver Syndrome is a very rare hereditary disorder characterized by
bone abnormalities in the hands or feet in addition to defects in the scalp
and skull.

Symptoms

Adams-Oliver Syndrome is characterized by the absence of areas in the skull
and bald ulcerated areas of overlying scalp.  These skull and scalp
abnormalities usually heal spontaneously during the first few months of life,
but in a few cases plastic surgery may be necessary.  Limb abnormalities may
vary in severity.  Fingers and toes may be absent or shorter than normal, and
the longer bones in the hand (metacarpals) may also be absent.  In some
severe cases, the legs below the midcalf may be absent.

Causes

Adams-Oliver Syndrome is a hereditary disorder inherited through autosomal
dominant genes.  (Human traits including the classic genetic diseases, are
the product of the interaction of two genes for that condition, 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 normal gene and resulting in appearance of the
disease.  The risk of transmitting the disorder from affected parent to
offspring is 50% for each pregnancy regardless of the sex of the resulting
child.)

Affected Population

Adams-Oliver Syndrome is a very rare disorder present at birth.  It affects
males and females in equal numbers.

Related Disorders

Symptoms of the following disorders can resemble those of Adams-Oliver
Syndrome.  Comparisons may be useful for a differential diagnosis:

Ectrodactyly (Split-Hand Deformity) is a genetic disorder characterized
by the absence of one or more fingers or toes.  The remaining fingers or toes
may grow together.  This deformity usually occurs either in both hands or
both feet.

Holt-Oram Syndrome (Heart-Hand Syndrome;  Atriodigital Dysplasia) is a
genetic disorder consisting of heart disease and arm abnormalities.  Often,
the forearm, fingers and wrists are deformed.  Although some affected
individuals may have limb defects only, they may pass the more severe form of
the syndrome to their offspring.  Other skeletal defects can occur, but these
may be so slight they are often not noticed.  (For more information, choose
"Holt-Oram" as your search term in the Rare Disease Database.)

Localized Absence of Skin (Aplasia Cutis Congenita) affects the scalp,
usually at the crown of the head or near the midline.  A skin ulcer may
develop with a membrane covering the underlying tissue.  A crust forms then
heals in a few weeks, leaving a fine hairless scar.  In rare cases, this
condition may involve the trunk and limbs, particularly the lower part of the
legs.

Therapies:  Standard

Treatment of Adams-Oliver Syndrome may consist of surgery in rare cases when
healing does not occur spontaneously.  Other treatment is symptomatic and
supportive.  Genetic counseling may be helpful for families of patients with
Adams-Oliver Syndrome.

Therapies:  Investigational

This disease entry is based upon medical information available through
November 1988.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Adams-Oliver Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

For information on genetics and genetic counseling referrals, please
contact:

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

References

CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES:  J.P. Fryns;
Journal Med Genet (August 1987:  issue 24(8)).  Pp. 493-496.

MENDELIAN INHERITANCE IN MAN, 7th ed:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 4.