From: wtm@sheldev.shel.isc-br.com (Bill McGarry)
Newsgroups: sci.med
Subject: Re: a disease called "cri-du-chat"
Date: 13 Nov 92 05:49:26 GMT
Organization: The Handicap News BBS (1-30-337-1607)

In article <914702yL291701@JUTS.ccc.amdahl.com> mdf10@diag.amdahl.com writes:
>
>I don't know if this is the right news group to post this or not, but I
>need information about a disease called "cri-du-chat(cat cry)".


This information is from the National Organization for Rare
Diseases's database on Compuserve.  NORD is an organization that
specializes in information on rare diseases and will put you in contact 
with other people or parents of children with the same disease or
disorder.  Their address is:

       The National Organization for Rare Disorders (NORD)
       P.O. Box 8923
       New Fairfield, CT 06812 (USA)
       Phone:    (800) 999-NORD
       (In CT):  (203) 746-6518

NORD has information on some 500 rare disorders and also has
information on orphan drugs.

NORD can also be reached on Compuserve.

PLEASE note that I obtained this information on Compuserve quite
a while back and this information may have been updated since
that time.  Please check with NORD or dial into Compuserve and
get an updated version. 

You can also access Medline through Compuserve and get a list
of medical literature references to Cri du Chat Syndrome.


Cri du Chat Syndrome


Synonyms
--------------------------------

5p-Syndrome 
Partial Deletion of the Short Arm of Chromosome Number 5 Syndrome 
Cat's Cry Syndrome 
Chromosome 5p-Syndrome 
Le Jeune 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 the disorder, please 
contact your personal physician and/or the agencies listed in the "Resources" 
section of this report.  

Copyright (C) 1984, 1985, 1987, 1990 National Organization for Rare  Disorders,
Inc.  

Cri du Chat Syndrome is characterized by a high, shrill cry in infants  that
sounds similar to that of a cat.  However, this type of high-pitched cry  has
been reported in other chromosomal disorders, and it is not present in  all
babies with this disorder.  Other symptoms include an abnormally small  head
(microcephaly), unusually wide-set eyes (ocular hypertelorism), a round  face,
and marked mental retardation.  Physical development is slow or  limited.  There
is usually diminished muscle tone (hypotonia), various  congenital defects of
the heart and genitals (genitourinary tract), and  severe breathing and feeding
problems.  Symptoms of Cri du Chat at birth  often change with age so that it is
difficult to make the diagnosis once  infancy is past because the cry disappears
and the face is no longer round.   Most patients with this disorder will then
blend into a group of  institutionalized severely mentally retarded individuals
if the disorder has  not been recognized early.  


Symptoms
--------------------------------

Almost all people with Cri du Chat Syndrome have an abnormally small head 
(microcephaly).  The typical infant has a round face with unusually wide-set 
eyes (hypertelorism), excess skin over the inner corners of the eyes 
(epicanthal folds), a downward eye slant, and a small chin.  The nose is 
prominent, and in profile it is considered beaklike.  These facial features  are
most distinctive in infants and may not be present in older patients.   Having
one eye which is either crossed or looking away (strabismus) is  common.  A few
patients have optic atrophy, nearsightedness (myopia) or a  groove or cleft in
the iris (coloboma).  The ears are usually low-set. Some  patients may have tags
of flesh in front of the ears (preauricular skin tags)  or malformed ears.  The
roof of the mouth (palate) is high.  Teeth may be out  of position
(malocclusion).  The neck is sometimes short.  

The high-pitched, wailing, catlike cry is present during the first weeks  of
life.  The structure in the throat (epiglottis) which prevents food and  liquids
from passing into the windpipe during swallowing is limp, and the  larynx, or
"voicebox,"  is very narrow.  When the individual with this  disorder breathes
in, the elongated epiglottis flops down over or into the  larynx, causing
obstruction of the airway (stridor).  When making sounds or  crying, the voice
is weakened; the high-pitched cry is emitted from the front  (anterior) portion
of the vocal cords.  

Common findings of Cri du Chat Syndrome are an increased frequency of  arches
and whorls on the fingers, unusual patterns and creases on the palms,  and
ridges which are slightly out of their normal position at the base of  each
finger (palmer triradi).  Many infants are small at birth and remain  small for
their age in height and weight throughout their lives.  Premature  graying of
hair occurs occasionally.  No abnormalities of sexual development  have been
noted in adults with Cri du Chat.  

In one study seven of 13 adults had a curved spine (scoliosis).  In the  same
study 11 of 13 had some short bones in the hands (metacarpals) and feet 
(metatarsals).  Twisted fingers (clinodactyly) and various types of clubfoot 
deformity have been reported, but are uncommon.  Occasionally, a split in the 
front of the upper lip (harelip or cleft lip), an abnormal fissure in the  roof
of the mouth (cleft palate) and or/the back of the mouth (bifid uvula)  may
occur due to incomplete development.  Other infrequent symptoms include  hernias
in the lower abdomen (inguinal hernias), undescended testicles 
(cryptorchidism), absent kidney or spleen, or flat feet.  In some patients,  one
side of a vertebra may be incompletely developed (hemivertebra).  

All of the reported patients with Cri du Chat Syndrome have been mentally 
retarded.  Most do not speak, and many have not learned to walk before the  age
of 10.  In many the IQ is very low.  Both extreme muscle tension  (hypertonia)
and diminished muscle tone (hypotonia) have been described in  infants.  Older
patients often have a waddling gait and poor muscular  development.  Hyperactive
reflexes and extreme muscle tension (hypertonia)  have also been noted in older
patients.  Seizures are uncommon.  


Causes
--------------------------------

The basic defect in Cri du Chat Syndrome is due to a partial deletion of the 
short arm of chromosome number 5 in the area of p14 to p15.1, which may be 
either at the end (terminal) or in the middle (interstitial).  This may  result
from either a deletion of the short arm, including at least the p15.1  band, or
unbalanced translocation (change of location) of the chromosome's  arm inherited
from a parent who is a carrier.  Rarely it is caused by a ring  formation with
deletion of part of the ends of the chromosome.  The greater  the deletion, the
lower the intelligence, height, and weight.  


Affected Population
--------------------------------

The precise frequency of Cri du Chat Syndrome is not known, but it has been 
estimated to be about 1 in 50,000 births.  Approximately 1% of 
institutionalized mentally retarded patients have this disorder.  


Therapies:  Standard
--------------------------------

Treatment for Cri du Chat Syndrome is symptomatic and supportive.  Physical 
therapy, special education and related services may be of benefit.  Surgery  to
correct an eye which is either crossed or looking away (strabismus) offers 
cosmetic improvement.  An orthopedist can be consulted for scoliosis and foot 
deformities.  A series of operations can correct cleft lip and palate.   Speech
therapy may be necessary.  Early preventative dental treatment in an  aggressive
manner is important; the dentist must be informed that the patient  has Cri du
Chat Syndrome and is mentally retarded.  Genetic counseling will  be of benefit
to families with Cri du Chat Syndrome.  


Therapies:  Standard
--------------------------------

Treatment for Cri du Chat Syndrome is symptomatic and supportive.  Physical 
therapy, special education and related services may be of benefit.  Surgery  to
correct an eye which is either crossed or looking away (strabismus) offers 
cosmetic improvement.  An orthopedist can be consulted for scoliosis and foot 
deformities.  A series of operations can correct cleft lip and palate.   Speech
therapy may be necessary.  Early preventative dental treatment in an  aggressive
manner is important; the dentist must be informed that the patient  has Cri du
Chat Syndrome and is mentally retarded.  Genetic counseling will  be of benefit
to families with Cri du Chat Syndrome.  


Therapies:  Investigational
--------------------------------

Research and studies of Cri du Chat Syndrome are ongoing.  One study has  shown
that early special schooling, a home environment (rather than an  institutional
one), and family support may help the patient achieve the  abilities of a normal
five or six year old.  In the same study half the  children over ten who had
undergone special schooling and a supportive home  life were able to communicate
adequately.  As for chromosomal research,  scientific techniques in determining
chromosomal abnormalities are becoming  more and more refined.  This means
diagnostic techniques have improved and in  certain instances prenatal diagnosis
may be possible.  

This disease entry is based upon medical information available through 
September 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 Cri du Chat Syndrome, please contact: 

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

Cri-du-Chat Society 
Department of Human Genetics 
Medical College of Virginia 
Box 33 
MCV Station 
Richmond, VA  23298 
(804)786-9632 

5p-Society 
11609 Oakmont 
Overland Park, KS  66210 
(913) 469-8900 

NIH/National Institute of Child Health and Human Development 
9000 Rockville Pike 
Bethesda, MD  20892 
(301)496-5133 

For information on genetics and genetic counseling referrals, please  contact:  

March of Dimes Birth Defects Foundation 
1275 Mamaroneck Avenue 
White Plains, NY  10603 
(914)428-7100 

National Center for Education in Maternal and Child Health 
3520 Prospect Street, N.W. 
Washington, D.C.  20057 
(202)625-8400 


References
--------------------------------

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.  Jones,
M.D., W. B. Saunders, Co. 1988.  Pp. 40-41.  

CONFIRMATION OF A BALANCED CHROMOSOMAL TRANSLOCATION USING MOLECULAR 
TECHNIQUES.  R. D. Smart, et al.; Prenat Diagn (Jul 1989; issue 9 (7)).  Pp. 
505-513.  

CRI-DU-CHAT SYNDROME: DENTAL CONSIDERATIONS AND REPORT OF CASE.  R. A.  Boraz. 
Spec Care Dentist (Jan-Feb 1990; issue 10 (1)).  Pp. 13-15.  

5p;12q TRANSLOCATION WITH MANIFESTATIONS OF CRI DU CHAT SYNDROME AND  MARFANOID
ARACHNODACTYLY.  S.Z. Zhang, et al.; Clin Genet (Feb 1990; issue 37  (2)).  Pp.
153-157.  

MOLECULAR ANALYSIS OF A CASE OF MEIOTIC RECOMBINATION LEADING TO CRI-DU- CHAT
SYNDROME.  M. Dobbs, et al.; Cytogenet Cell Genet (1988; issue 47 (1- 2)).  Pp.
5-7.  


Please consult PaperChase, the MEDLINE database of references to the  biomedical
literature, to search for the most recent information on Cri du  Chat Syndrome. 
PaperChase may be accessed by keying GO PCH at any prompt in  the Information
Services or off the NORD Services Menu. 


                                Bill McGarry
                                (203) 337-1518

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