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$Unique_ID{BRK04102}
$Pretitle{}
$Title{Pfeiffer syndrome}
$Subject{Pfeiffer syndrome Acrocephalosyndactyly V ACS V Noack Syndrome
Acrocephalosyndactyly Apert Syndrome Crouzon Disease (Apert-Crouzon Disease)
Saethre-Chotzen Syndrome Goodman Syndrome Otopalatodigital Syndrome}
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.

502:
Pfeiffer syndrome

** IMPORTANT **
It is possible the main title of the article (Pfeiffer Syndrome) is not
the name you expected.  Please check the SYNONYMS listing on the next page to
find alternate names and disorder subdivisions covered by this article.

Synonyms

     Acrocephalosyndactyly V
     ACS V
     Noack Syndrome

Information on the following diseases may be found in the Related
Disorders section of this report:

     Acrocephalosyndactyly
     Apert Syndrome
     Crouzon Disease (Apert-Crouzon Disease)
     Saethre-Chotzen Syndrome
     Goodman Syndrome
     Otopalatodigital Syndrome

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 personal physician and/or the agencies listed in the "Resources"
section of this report.

Pfeiffer Syndrome is a very rare genetic disorder primarily affecting the
bones.  It is characterized by a short, pointed or conical head (acro-
brachycephaly) and abnormalities of the face, jaws and teeth.  Webbed fingers
or toes (syndactyly) and other abnormalities of the thumbs and big toes may
also occur.  Symptoms can vary, ranging from mild to severe.

Symptoms

Pfeiffer Syndrome is characterized by bone abnormalities of the face and head
(craniofacial dysostosis), including a pointed or conical head, wide-set eyes
(hypertelorism), and slightly slanted eyelid folds.  Pressure on the brain
inside the skull may be elevated.  An underdeveloped upper jaw bone, high
arched palate, and prominent lower jaw may also be apparent.  The teeth may
erupt in the wrong places (maleruption) causing improper alignment
(malocclusion) when the jaws close.  The toes and fingers are partially
webbed, sometimes with broad, short thumbs and big toes.  One of the small
bones (phalanges) in the thumb may be either triangular or trapezoid shaped
and occasionally fused with the other small bone, so that the thumb points
away from the other fingers.  The big toe may also point excessively to the
midline of the body (varus deformity).

A mild hearing loss due to a defect in the middle ear may occur.
Intelligence is usually normal.  The opening from the stomach to the duodenum
may be narrowed at birth (congenital pyloric stenosis).  Spontaneous abortion
of a fetus with Pfeiffer Syndrome may occur in rare cases.

Causes

Pfeiffer Syndrome is a genetic disorder inherited through an autosomal
dominant mechanism, possibly through the action of a specific mutant gene
which produces many different features (pleiotropic).  (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

Pfeiffer Syndrome is a very rare disorder that affects males and females in
equal numbers.

Related Disorders

Symptoms of the following disorders can be similar to those of Pfeiffer
Syndrome.  Comparisons may be useful for a differential diagnosis:

Acrocephalosyndactyly is the name of a group of disorders including Apert
Syndrome (Type I);  Crouzon Disease (Type II); Saethre-Chotzen Syndrome (Type
III); Goodman Syndrome (Type IV); and, Pfeiffer Syndrome (Type V).  All are
characterized by a pointed head (acrocephaly) and webbing of fingers and/or
toes (syndactyly).

Apert Syndrome (Acrocephalosyndactyly Type I; Syndactylic Oxycephaly) is
an autosomal dominant inherited disorder.  It is characterized, in addition
to acrocephalosyndactyly, by other skeletal and facial abnormalities, and
mental retardation.  (For more information on this disorder, choose "Apert"
as your search term in the Rare Disease Database.)

Crouzon Disease (Apert-Crouzon Disease; Acrocephalosyndactyly Type II) is
a genetic disorder characterized, in addition to acrocephalosyndactyly, by
brain abnormalities caused by premature joining of various bones of the
skull.  Vision disturbances and deafness can develop in some cases.  With
treatment, pressure inside the skull may be relieved and major symptoms may
improve.  (For more information on this disorder, choose "Crouzon" as your
search term in the Rare Disease Database.)

Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III) is a hereditary
disorder characterized, in addition to acrocephalosyndactyly, by
abnormalities of the skin on the toes and fingers.  Short stature and, in
some cases, mild to moderate mental retardation may also occur.  (For more
information on this disorder, choose "Saethre-Chotzen" as your search term in
the Rare Disease Database.)

Goodman Syndrome (Acrocephalosyndactyly Type IV) is a hereditary disorder
characterized, in addition to acrocephalosyndactyly, by permanent lateral
deviation or deflection of one or more fingers (clinodactyly), permanent
flexion of one or more fingers (camptodactyly), and deviation of one of the
forearm bones (ulna).

Otopalatodigital Syndrome (OPD Syndrome) is a very rare sex-linked
genetic disorder characterized by hearing loss due to a defect of the middle
ear (conduction deafness), cleft palate, a characteristic face, and
generalized abnormality of bone development (dysplasia).  A broad based nose
gives the patient the appearance of a boxer.  Wide spacing of the toes,
abnormalities of the fingers, such as a permanent deviation or deflection
(clinodactyly) of the fifth finger, may also occur.  Dislocation of the head
of one of the forearm bones (radius), and a caved-in breast (pectus
excavatum) are other features which sometimes occur.

Therapies:  Standard

Treatment of patients with Pfeiffer Syndrome is symptomatic and supportive.
Surgery to relieve pressure in the skull may be performed during childhood.
The so-called "LeFort III advancement surgery" may be performed during early
childhood to prevent progressive malformation of the upper jaw.

Therapies:  Investigational

When hearing loss is caused by fixation of the small bones in the middle ear,
surgical correction may be indicated.

Genetic counseling is recommended for families of children with Pfeiffer
Syndrome.

This disease entry is based upon medical information available through
December 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 Pfeiffer Syndrome, please contact:

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

     NIH/National Institute of Child Health and Human Development (NICHD)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     FACES
     National Association for the Craniofacially Handicapped
     P.O. Box 11082
     Chattanooga, TN  37401
     [phone]

     National Craniofacial Foundation
     3100 Carlisle Street, Suite 215
     Dallas, TX 75204
     1-800-535-3643

     Society for the Rehabilitation of the Facially Disfigured, Inc.
     550 First Avenue
     New York, NY  10016
     [phone]

     About Face
     99 Crowns Lane
     Toronto, Ontario M5R 3PA
     Canada
     [phone]

     Let's Face It
     Box 711
     Concord, MA  01742
     [phone]

For genetic information 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

This report is based on outlines by medical and dental students (1984-1986)
at the Medical College of Virginia for their course in human genetics.

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick;  Johns
Hopkins University Press, 1986.  P. 13.

VARIABLE EXPRESSION IN PFEIFFER SYNDROME:  H.M. Sanchez, et al.;  Journal
Med Genet (February 1981:  issue 18(1)).  Pp. 73-75.

MAXILLARY GROWTH FOLLOWING LeFort III ADVANCEMENT SURGERY IN CROUZON,
APERT, AND PFEIFFER SYNDROMES:  D.I. Bachmayer, et al.;  American Journal
Orthod Dentofacial Orthop (November 1986:  issue 90(5)).  Pp. 420-430.

HEARING LOSS IN PFEIFFER'S SYNDROME:  C.W. Cremers;  International
Journal Pediatr Otorhinolaryngol (December 1981:  issue 3(4)).  Pp. 343-353.