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$Unique_ID{BRK03571}
$Pretitle{}
$Title{Carpenter Syndrome}
$Subject{Carpenter Syndrome Acrocephalopolysyndactyly
Acrocephalopolysyndactyly II ACPS Type II Juberg-Hayword Syndrome Nager
Acrofacial Oral-Facial-Digital Syndrome Noack Syndrome (ACPS Type I) Sakati
Syndrome (ACPS Type III) Goodman Syndrome (ACPS IV)}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
612:
Carpenter Syndrome
** IMPORTANT **
It is possible that the main title of the article (Carpenter 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
Acrocephalopolysyndactyly
Acrocephalopolysyndactyly II
ACPS Type II
Information on the following diseases can be found in the Related
Disorders section of this report:
Juberg-Hayword Syndrome
Nager Acrofacial
Oral-Facial-Digital Syndrome
Noack Syndrome (ACPS Type I)
Sakati Syndrome (ACPS Type III)
Goodman Syndrome (ACPS IV)
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.
Carpenter Syndrome is a very rare genetic disorder characterized by an
unusual shape of the head (oxycephaly) as well as deformities of the hands
(brachysyndactyly) and feet (preaxial polydactyly).
Symptoms
In Carpenter Syndrome, severe malformation of the head occurs caused by the
premature closing of all the bones in the skull (cranial sutures). The faces
of patients have characteristic "down-thrust" eyes, flattened nasal bridge,
broad cheeks, low-set ears and underdeveloped jaw bones. Hand deformities
include unusual shortness of fingers combined with webbing, especially
between the third and fourth digits. The feet have more than five toes on
each. Usually the big toe is duplicated. Other features include mild
obesity, possible mental retardation, large abdominal hernias, under-
developed sex organs (hypogenitalism) and congenital heart disease.
Causes
Carpenter Syndrome is inherited as an autosomal recessive 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 for the same trait 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.)
Affected Population
Carpenter 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 Carpenter
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, a smaller than normal sized
head, deformities of the thumbs and toes, and growth hormone deficiency
resulting in short stature.
Nager Acrofacial Dysostosis, (Mandibulofacial Dysostosis) is a rare
hereditary disorder marked by abnormal facial development. Cleft lip and
palate, defective development of bones of the jaw and arms, and smaller than
normal thumbs are characteristics of this disorder.
Oral-Facial-Digital Syndrome (OFD) is a genetic disorder marked by
distinctive structural abnormalities. Major symptoms include many episodic
neuromuscular disturbances, congenital malformations such as cleft palate,
other facial deformities, malformations of the hands and feet, and shortened
limbs. Mental retardation also occurs but varies in degree from mild to
severe. (For more information on this disorder, choose "Oral-Facial-Digital"
as your search term in the Rare Disease Database).
Noack Syndrome (ACPS Type I) is characterized by head deformities
(Acrocephaly) of a moderate degree with enlarged thumbs and duplicated great
toes, without mental retardation, obesity, or lack of development of sexual
characteristics (hypogenitalism). The syndrome is transmitted through the
autosomal dominant genes.
Sakati Syndrome (ACPS Type III) is characterized by head (acrocephaly),
hand and foot deformities (polysyndactyly). The legs are very short, and the
long leg bones (femurs) are bowed, whereas the short leg bones (tibias) are
underdeveloped and the other leg bone (fibula) is deformed. Other conditions
associated with this disorder are underdeveloped ears, loss of hair
(alopecia), drying of the skin, along with undescended testicles
(cryptorchidism), a smaller than normal penis (phallus), hernias in the groin
area and congenital heart disease.
In the Goodman Syndrome (ACPS Type IV) mental retardation is not a
feature, facial characteristics are different and the hand deformity is not
as pronounced as in Carpenter Syndrome.
Therapies: Standard
Treatment of Carpenter Syndrome usually consists of surgical correction of
malformations. Early cranial surgery is usually of benefit and may even
prevent mental retardation in many instances. Other deformities of hands,
feet and heart, as well as hernias, can benefit from early surgical
intervention. Genetic counseling will be of benefit for patients and their
families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through April
1989. 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 Carpenter 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 Child Health and Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Craniofacial Foundation
3100 Carlisle St., Suite 215
Dallas, TX 75204
(800) 535-3643
Institute of Reconstructive Plastic Surgery
NYU Medical Center
550 1st Avenue
New York, NY 10016
(212) 340-6656
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
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 797.
ACROCEPHALOPOLYSYNDACTYLY TYPE II CARPENTER SYNDROME; CLINICAL SPECTRUM
AND ATTEMPT AT UNIFICATION WITH GOODMAN AND SUMMIT SYNDROMES. D.M. Cohen, Am
J Med Genet (October, 1987, issue 28 (2)). Pp. 311-324.
CARPENTER SYNDROME; NATURAL HISTORY AND CLINICAL SPECTRUM. L.K.
Robinson, Am J Med Genet (March, 1985, issue 20 (3)). Pp. 461-469.
NORMAL INTELLIGENCE IN TWO CHILDREN WITH CARPENTER SYNDROME. J.L. Frias,
Am J Med Genet (1978, issue 2 (2)). 191-199.