$Unique_ID{BRK03613}
$Pretitle{}
$Title{Coffin-Lowry Syndrome}
$Subject{Coffin-Lowry Syndrome Coffin Syndrome Mental Retardation with
Osteocartilaginous Anomalies}
$Volume{}
$Log{}

Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.

425:
Coffin-Lowry Syndrome

** IMPORTANT **
It is possible the main title of the article (Coffin-Lowry 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

     Coffin Syndrome
     Mental Retardation with Osteocartilaginous Anomalies

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.

Coffin-Lowry Syndrome is a possibly hereditary disorder characterized by
short stature, facial abnormalities, lax joints, low muscle tone, and
retardation in physical and mental development.

Symptoms

The symptoms of Coffin-Lowry Syndrome tend to be more severe in males and
usually progress with age.  The face is characterized by a square forehead
with prominent sides, narrowing of both temples, scarce hair on the scalp,
thickened eyebrow ridges, downslanting eyelid slits, wide-set eyes, thickened
upper eyelids, a broad nasal bridge with a thick dividing cartilage (septum),
thick prominent lips, an open mouth, prominent chin and ears.  Additionally,
there may be feeding and respiratory problems.

Limb abnormalities may include large soft hands with double-jointed thick
fingers that taper toward the tips, an unusual prominent transverse crease
(hypothenar) and a shortened big toe.  In males, the skin is loose and may
stretch easily.  Affected males may be severely mentally retarded, while the
majority of affected females may be only mildly mentally retarded.  A clumsy,
broad-based walk may be a symptom affecting both males and females.  Affected
individuals may have short stature.  Many bone abnormalities may also occur
such as thickening of facial bones, shortening of the long bones, and pointed
or sunken breast bone.

Causes

Coffin-Lowry Syndrome is a hereditary disorder, thought to be inherited as a
dominant sex-linked trait.  Males may be more severely affected than females.

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 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

Coffin-Lowry Syndrome affects as many males as females.  However, symptoms
may be more severe in males.

Therapies:  Standard

Treatment for Coffin-Lowry Disease is symptomatic and supportive.  Genetic
counseling will be helpful for patients and their families.

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 Coffin-Lowry 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 Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5751
     (800) 352-9424

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     (301) 495-4484

For information on genetics 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
     (301) 652-5553

References

BRIEF CLINICAL REPORT:  EARLY RECOGNITION OF THE COFFIN-LOWRY SYNDROME:  W.G.
Wilson, et al.; (American Journal Med Genet (1981:  issue 8,2).  Pp. 215-220.

EARLY CLINICAL SIGNS IN COFFIN-LOWRY SYNDROME:  J.S. Vles, et al.;
Clinical Genet (November 1984:  issue 26,5).  Pp. 448-452.

FOREARM FULLNESS IN COFFIN-LOWRY SYNDROME:  A MISLEADING YET POSSIBLE
EARLY DIAGNOSTIC CLUE:  J.H. Hersh, et al.; American Journal Med Genet (June
1984: issue 18,2).  Pp. 195-199.