European International Journal of Multidisciplinary Research
and Management Studies
44
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TYPE
Original Research
PAGE NO.
44-48
DOI
OPEN ACCESS
SUBMITED
20 March 2025
ACCEPTED
16 April 2025
PUBLISHED
18 May 2025
VOLUME
Vol.05 Issue05 2025
COPYRIGHT
© 2025 Original content from this work may be used under the terms
of the creative commons attributes 4.0 License.
Albinism, Cri Du Chat
Syndrome, And Reilly
Syndrome (CIPA):
Features, Genetics,
Diagnosis, And Treatment
Aziza Abdullaivna Chutanova
Department of Medical Biology and Histology, Tashkent Medical
Academy, Termez Branch, Uzbekistan
Shahzoda Fayzulloevna Mukhiddinova
Faculty of Pediatrics, Group 101, Tashkent Medical Academy, Termez
Branch, Uzbekistan
Abstract:
This article discusses three rare genetic
diseases
—
albinism, Cri du Chat syndrome, and Reilly
syndrome (congenital insensitivity to pain with
anhidrosis). Their main clinical manifestations,
diagnostic methods, features of genetic transmission,
and modern approaches to treatment are described. An
overview of the impact of these diseases on the quality
of life of patients and the prospects for medical care is
presented.
Keywords:
Albinism, Cri du Chat syndrome, Reilly
syndrome, congenital diseases, genetics, diagnostics,
treatment.
Introduction:
The study of hereditary diseases such as
albinism, Cri du Chat syndrome and Reilly syndrome is
of great importance for medicine. These rare
pathologies lead to serious disorders in human
development and health. Early diagnostics and
understanding of genetic mechanisms help to provide
timely assistance, improve the quality of life of patients
and develop effective methods of treatment and
prevention.
Theoretical part
The term "hereditary diseases" refers to diseases that
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European International Journal of Multidisciplinary Research and Management Studies
are transmitted to a child from his parents. The cause
of pathological changes transmitted to the next
generations is a change in the human genetic code. The
human genetic code contains all the information about
a person that will accompany him throughout his life.
Hidden in its genes are data on the structure of
numerous proteins, from which and with the
participation of which all human organs and tissues are
built, as well as biologically active molecules that
regulate such construction. The causes of genetic
anomalies are not always precisely clear.
The first observations on the transmission of diseases
by inheritance were made in ancient times, but
hereditary diseases received a scientific basis with the
development of genetics. In the 19th century, Gregor
Mendel laid the foundations for the inheritance of
traits. In the 20th century, with the discovery of the
structure of DNA and chromosomal anomalies, it
became possible to identify the causes of many genetic
diseases. Gradually, diseases such as albinism, Cri-du-
Chat syndrome and Reilly syndrome were described,
which made it possible to improve diagnostics and
begin developing treatment methods.
Basic concepts
Hereditary diseases are pathologies that arise as a
result of mutations in genes or chromosomes that are
passed from parents to offspring.
Classification of hereditary diseases
By type of mutation:
Gene (monogenic): caused by a mutation in one gene
Examples: albinism, Reilly syndrome
Chromosomal: caused by a violation of the number or
structure of chromosomes
Example: Cri du Chat syndrome (deletion of a region of
the 5th chromosome)
Multifactorial: depend on both genes and the external
environment
Examples: diabetes, hypertension
By type of inheritance:
Autosomal recessive (e.g. albinism, Reilly syndrome)
Autosomal dominant
Sex-linked (e.g. color blindness)
Albinism is a genetic disease associated with a violation
of the production of melanin, a pigment responsible for
the color of the skin, hair and eyes. It is transmitted in
an autosomal recessive manner.
Cri-du-chat syndrome is a rare genetic disorder caused
by a partial deletion of the short arm of chromosome 5.
It is named for the child's characteristic cry, reminiscent
of a meow, and is accompanied by mental retardation
and physical anomalies.
Reilly syndrome (Reilly-Day syndrome) is a rare
hereditary disorder belonging to the group of lysosomal
storage diseases, most often involving disorders of the
nervous system and metabolism. It may be associated
with an autosomal recessive type of inheritance.
Modern views
Today, hereditary diseases are considered to be the
result
of
point
mutations,
chromosomal
rearrangements or metabolic disorders. Thanks to the
development of molecular genetics, it has become
possible to accurately identify genetic defects that
underlie diseases such as albinism (mutations in the
TYR, OCA2 genes), Cri-du-chat syndrome (deletion of a
chromosome region), and Reilly syndrome (defects in
metabolic pathways). Research is underway on gene
therapy, prenatal diagnostics, and gene editing
(CRISPR-Cas9), which opens up new prospects for
treatment and prevention. Albinism is a congenital
hereditary disease in which the production of melanin,
the pigment responsible for the color of the skin, hair,
and eyes, is disrupted. People with albinism have fair
skin, white or light hair, and very light or blue eyes.
At birth
—
characteristic external signs are noticeable.
Genetic testing can confirm the type of albinism.
Ophthalmological
examination
reveals
visual
impairments characteristic of albinism (for example,
nystagmus, photophobia, low vision).
Pros and cons of this "disease"
Pros:
Albinism is not life-threatening in itself.
People with albinism are full-fledged individuals with
normal intelligence.
In some cultures, albinos are considered special.
Cons:
Increased risk of skin cancer due to sensitivity to the
sun.
Visual impairment, sometimes severe.
Albinism is caused by a mutation in the genes involved
in the synthesis of melanin. There are several types of
albinism:
OCA1, OCA2, OCA3 and OCA4 are the most common.
Transmitted in an autosomal recessive manner.
If both parents are carriers of the defective gene:
25% chance that the child will have albinism.
50%
—
will be a carrier.
25%
—
will not have the mutation.
Symptoms: Very light skin and hair, light or blue eyes,
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poor vision (astigmatism, nystagmus, photophobia),
sensitivity to light, increased risk of skin cancer.
Cri du chat syndrome (French: Cri-du-chat, ICD-10:
Q93.4) is a rare genetic disorder caused by partial loss
of the short arm of the fifth chromosome (deletion 5p).
The name comes from the fact that newborns with this
syndrome emit an unusual high-pitched cry,
reminiscent of the meowing of a kitten. This is due to
underdevelopment of the larynx and impaired
innervation. The disease was first described in 1963 by
the French geneticist Jerome Lejeune, who also
discovered Down syndrome.
Characteristics of the disease
The work of a number of genes located in the 5p15.2
–
5p15.3 region is disrupted. Frequently encountered are
facial developmental abnormalities, microcephaly,
growth and weight retardation, mental retardation,
motor and speech delays. The disease is not gender-
specific
—
it occurs in both boys and girls. In most cases
(up to 85%), the deletion occurs spontaneously (de
novo), without being inherited from parents.
At birth, attention is paid to the characteristic “cat” cry,
low weight, and atypical head shape. External signs
raise suspicion of genetic pathology
Confirmed by genetic analysis:
Karyotyping
—
allows you to see the loss of a
chromosome region.
FISH analysis (fluorescent in situ hybridization) is more
accurate.
CGH array (molecular karyotyping) is a modern method
for diagnosing microdeletions.
Symptoms and signs Early manifestations (newborns):
High-pitched, shrill cry
Low birth weight and height
Problems with sucking, swallowing
Later (children and adolescents):
Microcephaly (small head size)
Mental retardation of varying degrees
Facial anomalies: flat face, wide bridge of the nose,
hypertelorism (wide-set eyes), low-set ears
Scoliosis, hypotonia (decreased muscle tone)
Congenital heart defects, kidney defects and other
anomalies of internal organs are possible
Diagnostics
Physical examination and symptom analysis are the
first basis for suspicion.
Genetic tests:
Karyotype is a standard method, reveals large deletions
FISH reveals small losses.
CGH is the most sensitive method, used when
microdeletions are suspected.
Additional studies:
ECG, ultrasound of the heart - when defects are
suspected
MRI of the brain
Neuropsychological examination
Treatment
There is no specific therapy, treatment is symptomatic
and aimed at improving the quality of life:
Early intervention (from infancy): Drug treatment - if
necessary (for example, anticonvulsants, if there is
epilepsy) Surgery - in the presence of heart defects,
larynx, etc. Long-term rehabilitation and support in
education, everyday adaptation are necessary.
Probability of the disease Occurs in approximately 1 in
20,000
–
50,000 newborns. In about 85% of cases, the
deletion occurs by chance (de novo).
In the remaining 10-15% of cases, it is inherited from
parents who had a balanced translocation (without
symptoms, but with a risk of passing on the defect). The
risk of having a sick child again depends on the genetic
profile of the parents and can be from 0.5% to 50% in
the hereditary form.
Life expectancy
In the absence of severe malformations of internal
organs, children can live to adulthood. The average life
expectancy is reduced, but with good care and medical
supervision, life expectancy of over 50 years is possible.
What is Reilly syndrome?
CIPA (Congenital Insensitivity to Pain with Anhidrosis) is
a rare genetic disorder in which a person does not feel
physical pain, does not sweat (anhidrosis) and often has
problems with div temperature regulation. In
common parlance, it is also called “Reilly syndrome”,
but this is a less accurate term. The syndrome was
described in 1932 by doctors Reilly and Meev, hence
the name.
Cause of the disease
CIPA is caused by a mutation in the NTRK1 gene, which
is responsible for the development and function of
nerve cells that transmit pain and temperature signals.
As a result:
Nociceptors - pain receptors - are not formed.
The functioning of the autonomic nervous system is
disrupted.
Main symptoms: complete insensitivity to pain from
birth, lack of sweating (anhidrosis), increased div
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temperature (hyperthermia) in the heat, under stress,
self-harm (for example, biting their fingers, tongue),
injuries, burns, fractures go unnoticed.
Anomalies are noticeable from birth: the child does not
cry when given injections, blows, does not react to
burns. Genetic testing (NTRK1 analysis) confirms the
diagnosis. Additionally, a neurological examination and
skin biopsy (checking sensory nerves) are performed.
Diagnostics includes: anamnesis (absence of pain,
sweat, injury), physical examination, phenetic analysis,
skin or nerve biopsy, sweat test.
Treatment: There is no complete cure, treatment is
aimed at maintaining life and preventing complications:
Constant examination of the div for wounds,
fractures
Cooling the div in the heat (fans, cool clothing)
Physiotherapy, orthopedic care
Practical significance, significance for science and
medicine, practical application and possible research
The study of hereditary diseases such as albinism, Cri-
du-chat syndrome and Reilly syndrome is of great
practical importance for both medicine and society.
These pathologies, despite their relative rarity, require
an integrated approach to diagnosis, treatment and
patient care, which is especially important in the
context of increasing birth rates and the emergence of
modern methods of gene diagnostics.
The scientific significance of such studies lies in a
deeper understanding of the mechanisms of
inheritance, molecular and cellular processes occurring
during genetic mutations. Using albinism as an
example, one can trace how a mutation of one gene
(for example, TYR) completely changes the metabolism
of melanin in the div. Cri du Chat syndrome provides
a clear example of the consequences of a chromosomal
deletion. And Reilly syndrome is of interest from the
point of view of metabolic disorders and neurogenetics.
Medical significance For medicine, knowledge of the
nature of these diseases opens the way to the
development of methods of genetic diagnostics,
prenatal screening, family counseling, and, in the
future, to gene therapy, which allows eliminating the
cause of the disease at the molecular level. This is
especially relevant in neonatology and pediatrics,
where it is important to identify and correct possible
developmental deviations as early as possible.
Personal opinion
In my opinion, the study of hereditary diseases is not
just a scientific necessity, but an important step
towards the humanization of medicine. It is especially
important that future doctors, including students,
understand not only the biological mechanisms of such
diseases from their first years, but also feel responsible
for the fate of patients. For me personally, the topic of
albinism and other rare genetic disorders has become a
reason to think about the importance of early diagnosis
and careful attitude towards people living with such
features, and these diseases seem to me to be related.
I believe that the development of genetic research is
the key to future medicine, in which every disease can
be prevented, and not just treated.
"Understanding the underlying causes of hereditary
diseases is the key to the future, where medicine does
not just treat diseases, but prevents their occurrence,
opening the way to the health of a new generation!"
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