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$Unique_ID{BRK04065}
$Pretitle{}
$Title{Oral-Facial-Digital Syndrome}
$Subject{Oral-Facial-Digital Syndrome Mohr Syndrome OFD Syndrome
Orofaciodigital Syndrome Oral-Facial-Digital Syndrome Oral-Facial-Digital
Syndrome I Oral-Facial-Digital Syndrome II Oral-Facial-Digital Syndrome III
Oral-Facial-Digital Syndrome IV Juberg-Hayward Syndrome Nager Acrofacial
Dysostosis, AFD, Nager Type Joubert Syndrome}
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders,
Inc.
531:
Oral-Facial-Digital Syndrome
** IMPORTANT **
It is possible the main title of the article (Oral-Facial-Digital
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
Mohr Syndrome
OFD Syndrome
Orofaciodigital Syndrome
Oral-Facial-Digital Syndrome
DISORDER SUBDIVISIONS:
Oral-Facial-Digital Syndrome I
Oral-Facial-Digital Syndrome II
Oral-Facial-Digital Syndrome III
Oral-Facial-Digital Syndrome IV
Information on the following diseases can be found in the Related
Disorders section of this report:
Juberg-Hayward Syndrome
Nager Acrofacial Dysostosis, AFD, Nager Type
Joubert 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.
Oral-Facial-Digital Syndrome (OFD) is a genetic disorder. Major symptoms
include many episodic neuromuscular disturbances, congenital malformations
such as cleft palate, other facial deformities, malformation of the hands and
feet, shortened limbs and various degrees of mental retardation.
Symptoms
Four types of Oral-Facial-Digital Syndrome have been identified. Symptoms
Common to all types include episodic neuromuscular disturbances, split
tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that
supports the tongue (frenulum), a broad based nose, vertical folds of skin
covering the inner angle where the eyelids meet (epicanthic folds), more than
the normal number of fingers and/or toes, shorter than normal fingers and/or
toes, and more than the normal number of divisions between skull sections.
Children born with Oral-Facial-Digital Syndrome (OFD) type I have coarse
thin hair, grainy skin lesions, and the development of more than the normal
number of fingers on one hand only (unilateral polysyndactyly).
Patients with OFD II have much the same symptoms as those of Type I
although they also have more than the normal number of toes on both feet.
Type III OFD is characterized by more than the normal number of teeth and
a wider eye opening during chewing ("jaw winking").
OFD type IV is distinguishable from other types of this disorder because
it is marked by shortened limbs. Some patients also have psychomotor
retardation, clefts of the jaw and tongue, and tooth malformations.
Abnormalities of the jaw, tongue and upper lip occur as well as eye problems,
such as "seesaw winking" and outward focusing of the eyes independently of
each other (exotropia).
Causes
The exact cause of OFD is not known although it is suspected to be inherited
in types II, III, and IV as an autosomal recessive trait. Type I OFD is
suspected 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 for that condition, one received from the father
and one from the mother.
In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from each parent. If one receives one
normal gene and one gene for the disease, the person will be a carrier for
the disease, but usually will show no symptoms. The risk of transmitting the
disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent. Fifty percent of their children
will be carriers, but healthy as described above. Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.
In X-linked dominant disorders, the female with only one X chromosome
affected will develop the disease. However, the affected male always has a
more severe condition. Sometimes affected males die before birth so that
only female patients survive.
Affected Population
Oral-Facial-Digital Syndrome is a very rare disorder. Most types affect
males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Oral-Facial-
Digital Syndrome. Comparisons may be useful for a differential diagnosis:
Juberg-Hayword Syndrome (Orocraniodigital Syndrome) is a rare hereditary
disorder characterized by cleft lip and palate malformations, a smaller than
normal sized head, deformities of the thumbs and toes, and growth hormone
deficiency resulting in short stature.
Nager Acrofacial Dysostosis, AFD, Nager Type, (Mandibulofacial
Dysostosis) is a rare hereditary disorder marked by abnormal facial
development. This results in cleft lip and palate, defective development of
bones of the jaw and arms, and smaller than normal thumbs.
Joubert Syndrome is a very rare hereditary neurological disorder marked
by malformation of the area of the brain which controls balance and
coordination. Neuromuscular and eye movement disturbances similar to those
of Oral-Facial-Digital Syndrome occur. Additionally, psychomotor
retardation, and/or respiratory abnormalities may develop. Some of the
symptoms may decrease with age. (For more information on this disorder,
choose "Joubert Syndrome" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Oral-Facial-Digital Syndrome may involve reconstructive surgery
for facial clefts. Genetic counseling is recommended for patients and their
families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through May
1990. 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 Oral-Facial-Digital Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
About Face
99 Crowns Lane
Toronto, Ontario M5R 3PA
Canada
(416) 944-3223
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Foundation for Facial Reconstruction
550 First Avenue
New York, NY 11016
(212) 340-6656
For Information on Cleft Palate:
American Cleft Palate Cranial Facial Association
1218 Granview Ave.
Pittsburgh, PA 15211
(412) 681-1376
(800) 24CLEFT
Prescription Parents, Inc.
P.O. Box 426
Quincy, MA 02269
(617) 479-2463
National Cleft Palate Association
1218 Grandview Ave.
Pittsburgh, PA 15211
1-800-24CLEFT
1-800-23CLEFT
National Foundation of Dentistry for the Handicapped
1250 14th Street, Suite 610
Denver, Colorado 80202
(303) 573-0264
For Genetic Information and genetic counseling referrals:
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
(301) 652-5553
References
This Rare Disease Database entry is based upon outlines prepared by medical
and dental students (1984-1986) at the Medical College of Virginia for their
course in human genetics, and the following articles:
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns
Hopkins University Press, 1986. Pp. 1118, 1175, 1438.
THE SPECTRUM OF THE ORO-FACIAL-DIGITAL SYNDROME; O.M. Fenton, et al.; Br
J Plast Surg (October 1985, issue 38(4)). Pp.532-539.
MOHR SYNDROME IN TWO SIBLINGS: A. Gencik, et al.; J Genet Hum (December
1983, issue 31(4)). Pp. 307-315.
PRENATAL DIAGNOSIS OF MOHR SYNDROME BY ULTRASONOGRAPHY: M. Iaccarino, et
al.; Prenat Diagn (November-December 1985, issue 5(6)). Pp. 415-418.
OROCRANIODIGITAL (JUBERG-HAYWARD) SYNDROME WITH GROWTH HORMONE
DEFICIENCY; H. M. Kingston, et al.; Arch Dis Child (October 1982, issue 57
(10)). Pp. 790-792.
A CASE OF THE OROCRANIODIGITAL (JUBERG-HAYWARD) SYNDROME; N. C. Nevin, et
al.; J. Med. Genet (December 1981, issue 18 (6)). Pp. 478-481.
SYNDROME OF ACROFACIAL DYSOSTOSIS, CLEFT LIP/PALATE, AND TRIPHALANGEAL
THUMB IN A BRAZILIAN FAMILY; A. Richieri-Costa, et al.; Am J Med Genet (1983
issue 14). Pp. 225-229.