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$Unique_ID{BRK04063}
$Pretitle{}
$Title{Opitz Syndrome}
$Subject{Opitz Syndrome BBB Syndrome BBBG Syndrome G Syndrome
Hypospadias-Dysphagia Syndrome Hypertelorism-Hypospadias Syndrome
Hypertelorism with Esophageal Abnormalities and Hypospadias Opitz BBB/G
Compound Syndrome Opitz BBBG Syndrome Opitz BBB Syndrome Opitz-Frias Syndrome
Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz
Oculogenitolaryngeal Syndrome Telecanthus-Hypospadias Syndrome Telecanthus
with Associated Abnormalities Waardenburg Syndrome Imperforate Anus VACTERL
Association}
$Volume{}
$Log{}

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

828:
Opitz Syndrome

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

Synonyms

     BBB Syndrome
     BBBG Syndrome
     G Syndrome
     Hypospadias-Dysphagia Syndrome
     Hypertelorism-Hypospadias Syndrome
     Hypertelorism with Esophageal Abnormalities and Hypospadias
     Opitz BBB/G Compound Syndrome
     Opitz BBBG Syndrome
     Opitz BBB Syndrome
     Opitz-Frias Syndrome
     Opitz G Syndrome
     Opitz Hypertelorism-Hypospadias Syndrome
     Opitz Oculogenitolaryngeal Syndrome
     Telecanthus-Hypospadias Syndrome
     Telecanthus with Associated Abnormalities

Disorder Subdivisions:

     G Syndrome
     BBB Syndrome

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

     Waardenburg Syndrome
     Imperforate Anus
     VACTERL Association

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.

Opitz Syndrome is an uncommon hereditary disorder.  Major symptoms may
include unusually wide-set eyes (hypertelorism), an abnormal opening on the
underside of the penis in males (hypospadias), a cleft lip, an abnormal
fissure in the roof of the mouth (cleft palate) and/or swallowing defects
(choking, aspiration).  In some patients, there is an absence of an anal
opening (imperforate anus).

Symptoms

Opitz Syndrome was initially thought to represent two different hereditary
disorders:  Opitz G Syndrome and Opitz BBB Syndrome.  Several researchers
have concluded that the two syndromes are really just a single condition with
symptoms which vary both in type and severity from patient to patient.  Some
researchers feel, however, that "Opitz G" and "Opitz BBB" are two separate
disorders.  Below are the differences between Opitz G and Opitz BBB
syndromes.

SYMPTOMS COMMON TO BOTH:

Individuals with both forms of Opitz Syndrome generally have unusually
wide-set eyes (hypertelorism).  Males often have an abnormal opening located
on the underside of the penis (hypospadias), a cleft in the scrotum (bifid
scrotum) and/or undescended testicles (cryptorchidism).  Females usually have
normal genitals or a minor malformation of the outer area of the genitals
("splayed" labia majora).  The ears may be slightly rotated on the head
(posterior angulation of auricle).  Individuals may have a "widow's peak" of
hair on the forehead.  Mild mental retardation and/or hernias may also occur.

Occasionally, the following symptoms may occur in both forms of Opitz
Syndrome:  the anal opening may be absent (imperforate anus).  There may be a
split of the upper lip (cleft lip or "harelip"), and/or an abnormal fissure
in the roof of the mouth (cleft palate).  Sometimes the back of the mouth may
have a fissure as well (cleft uvula).  A shorter than average connection
(membrane) between the floor of the mouth and the underside of the tongue
(frenulum) may be present.  In some patients, one eye may be crossed
(strabismus).  Eyelid abnormalities (downslanting palpebral fissures) may
occur.  There may also be an irregular shape to the head (cranial asymmetry).

Abnormalities of the heart (cardiac anomaly), or abdominal muscles
(diastasis recti) are infrequent.  Other uncommon symptoms include absence or
inadequate development (agenesis) of the gallbladder or defects of the kidney
(renal defects).  Part of the small intestine may be narrower than normal
(duodenal stricture) in some patients.  Twins, especially identical twins,
may occur more often in families having this disorder (increased monozygotic
twinning).

SYMPTOMS COMMON TO OPITZ G SYNDROME:

Babies with Opitz G Syndrome may have a weak, hoarse cry.  Swallowing or
breathing is usually difficult.  In some babies food may go into the lungs
(recurrent aspiration) because of breathing and swallowing problems, possibly
due to nerve and muscle dysfunction, or malformations.  These malformations
may include a malformed larynx, a cleft between the larynx or "voicebox" and
windpipe (laryngotracheal cleft), or an abnormal passage between the windpipe
and upper digestive tract (tracheoesophageal fistula).  Lungs may be
underdeveloped (pulmonary hypoplasia).  Below the vocal cords the throat may
narrow (subglottic stenosis) or there may be an inability to relax muscles of
the upper digestive tract (achalasia of esophagus).

The bridge of the nose is usually broad and flat with the openings of the
nose set more forward than usual (nares anteverted).  The jaw may be
unusually small (micrognathia) and the roof of the mouth (palate) may have a
high arch.

SYMPTOMS COMMON TO OPITZ BBB SYNDROME:

In Opitz BBB Syndrome, respiratory and swallowing difficulties or a
hoarse voice are not present.  Physical features of the face are different
from those of Opitz G Syndrome.  The bridge of the nose is often high and
broad.  Congenital heart disease such as coarctation of the aorta and atrial
septal defect may occur in some patients.  Abnormalities of the upper urinary
tract, a twisted intestine (volvulus), or a small penis may also occur.

Causes

Opitz G Syndrome is inherited as an autosomal dominant trait with
abnormalities of the genitals occurring only in males.  Opitz BBB Syndrome is
believed by some researchers to be inherited as an X-linked dominant trait.

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 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.

X-linked dominant disorders are conditions which are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Because males only have one X chromosome, affected
males always have a more severe condition.  The female with only one X
chromosome affected will develop the disease; however, disease traits on the
X chromosome can be masked by the normal gene on the other X chromosome.

Affected Population

Both forms of Opitz Syndrome (G and BBB) are rare genetic disorders present
at birth.  They affect males more often and more severely than females.

Related Disorders

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

Waardenburg Syndrome is characterized by displacement of the inner folds
of the eyelids, prominence of the nose, and overdevelopment of the eyebrows.
The patient may have two different colored eyes or two colors in one iris of
the eye.  Congenital (present at birth) nerve deafness may also occur.  A
white streak of hair in the front (forelock) of the head or early graying of
the hair are characteristic of this disorder.  A thin nose with flaring
nostrils, a "cupid bow" configuration of the lips, wide-set eyes,
inflammation of the tear sac and drooping of the upper eyelids may occur.  A
lack of an indent between the nose and the forehead, prominent lower jaw and
a clefted or high-arched palate may also be present.  (For more information
on this disorder, choose "Waardenburg" as your search term in the Rare
Disease Database).

Imperforate Anus is a rare congenital abnormality characterized by the
absence or abnormal location of the anus.  The rectum or colon may be
connected to the vagina or the bladder by a tunnel (fistula).  With surgical
correction, normal fecal elimination can become possible.  Imperforate Anus
can occur alone or as a symptom of another disorder.  (For more information
on this disorder, choose "imperforate anus" as your search term in the Rare
Disease Database).

VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal
atresia (absence of a normal anal opening), congenital (C)ardiac disease,
(T)racheo(E)sophageal fistula (abnormal openings or passages between the
windpipe and/or upper digestive tract), (R)enal anomalies, radial dysplasia,
and other (L)imb defects.  These abnormalities are present at birth.  (For
more information on this disorder, choose "VACTERL" as your search term in
the Rare Disease Database).

Therapies:  Standard

Ultrasound testing (a technique which uses sound waves to form pictures)
before birth may indicate the presence of Opitz Syndrome.  If there is
swelling of the fetus before birth due to a build-up of fluids, this can be
treated while the baby is still in the womb.

Treatment of Opitz Syndrome often includes corrective surgery for
malformations.  Special education and related services may be helpful for
children with this disorder.  Genetic counseling may be of benefit for
patients and their families.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

Some researchers believe conditions of the baby's environment before birth
may influence the severity of symptoms present in Opitz Syndrome.  Research
on Opitz Syndrome and its heredity is ongoing.

This disease entry is based upon medical information available through
January 1991.  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 Opitz Syndrome, please contact:

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

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

     Dr. John Opitz
     Shodair Children's Hospital
     P.O. Box 5539
     Helena, MT 59604

For genetic information and genetic counseling referrals:

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

     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; Johns Hopkins
University Press, 1990.  Pp. 496, 1723.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth
Lyons Jones, M.D.; W.B. Saunders Co., 1988.  Pp. 114-117.

BBBG SYNDROME OR OPITZ SYNDROME:  NEW FAMILY.  A. Verloes, et al.; Am J
Med Genet (Nov 1989; issue 34 (3)).  Pp. 313-316.

CONGENITAL ANAL ANOMALIES IN TWO FAMILIES WITH THE OPITZ G SYNDROME.  J.
L. Tolmie, et al.; J Med Genet (Nov 1987; issue 24 (11)).  Pp. 688-691.

OPITZ-FRIAS SYNDROME.  A CASE WITH POTENTIALLY HAZARDOUS ANAESTHETIC
IMPLICATIONS.  S. N. Bolsin and C. Gillbe; Anaesthesia (Dec 1985; issue 40
(12)).  Pp. 1189-1193.

OPITZ (G) SYNDROME.  C. P. Kimmelman and J. C. Denneny; Int J Pediatr
Otorhinolaryngol (Oct 1982; issue 4 (4)).  Pp. 343-347.

PRENATAL DIAGNOSIS OF OPITZ (BBB) SYNDROME IN THE SECOND TRIMESTER BY
ULTRASOUND DETECTION OF HYPOSPADIAS AND HYPERTELORISM.  C Hogdall, et al.;
Prenat Diagn (Nov 1989; issue 9 (11)).  Pp. 783-793.

PRENATAL TREATMENT OF FETAL HYDROPS ASSOCIATED WITH THE HYPERTELOR
SYNDROME (OPITZ-G SYNDROME).  M. A. Patton, et al.; Prenat Diagn (Mar-Apr
1986; issue 6 (2)).  Pp. 109-115.

THE OPITZ HYPERTELORISM-HYPOSPADIAS SYNDROME.  FURTHER DELINEATION OF THE
SPECTRUM OF CLINICAL FINDINGS.  A. M. Dereymaeker, et al.; J Genet Hum (Aug
1987; issue 35 (4)).  Pp. 259-265.

THE OPITZ SYNDROME:  A NEW DESIGNATION FOR THE CLINICALLY
INDISTINGUISHABLE BBB AND G SYNDROMES.  M. Cappa, et al.; Am J Med Genet (Oct
1987; issue 28 (2)).  Pp. 303-309.