CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0421/04217.txt

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$Unique_ID{BRK04217}
$Pretitle{}
$Title{Shprintzen Syndrome}
$Subject{Shprintzen Syndrome Velocardiofacial Syndrome VCF Syndrome Shprintzen
VCF Syndrome DiGeorge Syndrome Fetal Alcohol Syndrome }
$Volume{}
$Log{}

Copyright (C) 1991, 1993 National Organization for Rare Disorders, Inc.

853:
Shprintzen Syndrome

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

Synonyms

     Velocardiofacial Syndrome
     VCF Syndrome
     Shprintzen VCF Syndrome

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

     DiGeorge Syndrome
     Fetal Alcohol 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.

Shprintzen Syndrome is a rare disorder in which cleft palate, heart
abnormalities, learning disabilities and distinct physical features are all
present.  This disorder is inherited as an autosomal dominant trait and is
the most common syndrome related to cleft palate without cleft lip.

Symptoms

The symptoms of Shprintzen Syndrome are:

1.  Cleft palate - patients with Shprintzen Syndrome have a mild form of
cleft palate.  The lobe in the middle of the back of the soft palate (uvula)
is split and there is a thin union of the two halves of the palate in the
middle with a mucous covering on the rear portion of the mouth.  The muscles
under the soft palate do not fuse together and a notch can be felt where the
hard and soft palates meet.  This notch replaces the back spine of the
palate.  (For more information on this disorder choose "Cleft Lip and Cleft
Palate" as your search term in the Rare Disease Database).

2.  Abnormalities of the heart - the wall that separates the right and
left chambers of the heart which receive blood and then force it back into
the arteries (ventricular septal) does not form properly; there may be right
aortic arch abnormalities; and a congenital abnormality in which there is
obstruction in the outflow from the right ventricle of the heart to the
lungs, with an enlarged right ventricle and a displaced aorta that receives
blood from both the right and left ventricles (Tetralogy of Fallot).  (For
more information on this disorder choose "Tetralogy of Fallot" as your search
term in the Rare Disease Database).

3.  Learning disabilities - mild intellectual delay is present in the
majority of patients with Shprintzen Syndrome.  The average I.Q. scores in
high school age children is 69-87.  Problems with abstraction, comprehension
in reading and math are usually apparent at school age.  Mental retardation
is less frequent but may also be present with this syndrome.

4.  Distinct physical features - loss of muscle tone (hypotonia), small
slender stature, tapered hands and fingers, small head circumference
(microcephaly), recessed jaw (retrognathia), tubular nose, flat cheeks, long
upper jaw, long vertical groove in the middle of the upper lip (philtrum),
blue coloring under the eyes, small outer ears, thick outer rims of the ear,
two different sized ears and nasal sounding speech secondary to cleft palate
may be present.

Some (but not all) of the following additional symptoms may be present in
patients with Shprintzen Syndrome:

5.  An absent or underdeveloped thymus causing a insufficient production
of antibodies.

6.  Hearing loss

7.  Eye abnormalities - small optic discs, clouding of the lens of the
eye or it's surrounding membrane obstructing the passage of light (cataract),
abnormal smallness of one or both eyeballs (microphthalmia), and twisted
vessels in the optic disc.

8.  Curvature of the spine (scoliosis).

9.  Rupture or protrusion in the groin or central abdominal region
(inguinal or umbilical hernia).

10.  Failure of the testes to descend into the scrotum in males
(cryptorchidism).

11.  Deficiency of calcium in the blood (hypocalcemia).

12.  Absent or small adenoids.

13.  Absent or small tonsils.

14.  Newborn children may have obstructed breathing due to the recessed
jaw and loss of muscle tone in the throat area.

15.  An abundance of hair on the scalp.

Causes

Shprintzen Syndrome is inherited as an autosomal dominant trait although
there have been several sporadic cases reported with unknown causes.  Human
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 fifty percent
for each pregnancy regardless of the sex of the resulting child.

Affected Population

Shprintzen Syndrome affects males and females in equal numbers.
Approximately 5-8% of the children born with cleft palate (without cleft lip)
have this syndrome.

Related Disorders

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

DiGeorge Syndrome is a complex group of congenital malformations among
which is susceptibility to recurrent infections due to a deficient immune
system and the occurrence of seizures during infancy due to low levels of
calcium in the blood.  This disorder results from the impaired development of
two of the pharyngeal pouches during early development of the fetus.  The
parathyroid gland which regulates the concentration of calcium in the blood,
and the thymus gland which transforms certain lymphocytes into T-cells,
(responsible for cellular and long-term immune reactions), are absent or
abnormal in DiGeorge Syndrome.  This syndrome is often found in patients with
Shprintzen Syndrome.  (For more information on this disorder choose "DiGeorge
Syndrome as your search term in the Rare Disease Database).

Fetal Alcohol Syndrome (FAS) is a combination of birth defects involving
both physical and mental impairments.  Extensive scientific research into the
effects of alcohol (ethanol) on a fetus has established that the use of
alcohol during pregnancy poses a serious threat to the health of the unborn
child.  Fetal Alcohol Syndrome is totally preventable if an expectant mother
does not drink alcohol.  Symptoms of this disorder may be low birth weight,
small head circumference, mental retardation, impaired motor coordination,
impaired development of the upper jaw, heart problems and genital defects.
(For more information on this disorder choose "Fetal Alcohol Syndrome" as
your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Shprintzen Syndrome is symptomatic and supportive.  When
obstructive apnea is present a tube may be placed into the nasal cavity and
pharynx (nasopharyngeal tube) to help with breathing.

Surgery to make a pharyngeal flap may be performed in order to help
eliminate the nasal sound when speaking.  This surgery cannot be performed on
patients when there is medial displacement of the carotid arteries.  Those
patients that cannot have the surgery may be fitted with a prosthetic speech
device.

Cosmetic surgery may be performed on the nose (rhinoplasty), upper and
lower jaws of those patients who want to remove the facial characteristics
associated with this syndrome.

A team approach should be used in making decisions about the treatment of
symptoms in patients with Shprintzen Syndrome.  A pediatrician, speech
pathologist, orthodontist, plastic surgeon and psychologist may all be called
in to consult with the parents.

Most patients have mild impairments in speech, language development, and
math.  This becomes apparent after entering school and special class
placement or supplementary educational services usually are required.
Eventually most patients are mainstreamed and graduate from high school.

When congestion is causing the hearing impairment, the placement of tubes
in the ears may be beneficial.

Genetic counseling may be of benefit for patients and their families.

Therapies:  Investigational


Orphan Products:  The palate of cleft palate patients is closed during
early childhood but difficulties may persist if the palate is excessively
short in relation to the pharynx.  Researchers are studying a teflon-
glycerine paste that is applied to the rear of the pharynx in a minor
surgical procedure.  A rounder ledge or bump is formed, bringing the pharynx
and palate into the proper relationship with each other.  The hardened paste
remains in place indefinitely; no side effects have been observed.  Children
as young as eight years old have been treated with this procedure.

For further information on this procedure contact:

     William N. Williams, D.D.S.
     University of Florida
     College of Dentistry
     Box J-424
     Gainesville, FL  32610
     [phone]

A clinical database is being developed to help with chromosomal
information on VCF patients.  A DNA bank is being developed at Albert
Einstein College of Medicine.  Interested persons may contact:

     Rosalie Goldberg, Genetic Counselor or Robert J. Shprintzen, PhD.,
     Director
     Center for Craniofacial Disorders
     111 E. 210th St.
     Bronx, NY  10467
     [phone]
     [phone] (FAX)

This disease entry is based upon medical information available through
June 1993.  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 Shprintzen Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     203-746-6518

     American Cleft Palate Cranial Facial Association
     1218 Granview Ave.
     Pittsburgh, PA 15211
     [phone]
     (800) 24CLEFT

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

     National Foundation for Facial Reconstruction
     550 First Ave.
     New York, NY  11016
     [phone]

     American Heart Association
     7320 Greenville Ave.
     Dallas, TX  75231
     [phone]

     National Hearing Association
     P.O. BOX 8897
     Metairie, LA  70011
     (504) 888-HEAR

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

     NIH/National Institute of Dental Research
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     914-428-7100

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

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 963.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  P. 224.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1744-5.

VELO-CARDIO-FACIAL SYNDROME (SHPRINTZEN SYNDROME).  R. Domenici, et al.;
Pediatr Med Chir (Sept-Oct, 1984, issue 6(5)).  Pp. 695-7.

DI GEORGE ANOMALY AND VELOCARDIOFACIAL SYNDROME.  C.A. Stevens, et al.;
Pediatrics (April, 1990, issue 85(4)).  Pp. 526-30.

ABNORMAL CAROTID ARTERIES IN THE VELOCARDIOFACIAL SYNDROME:  A REPORT OF
THREE CASES.  K. MacKenzie-Stepner, et al.; Plast Reconstr surg (September,
1987, issue 80(3)).  Pp. 347-51.