Fragile X

Syndrome
Group 3
 • Fragile X syndrome (FXS) is an
inherited genetic disorder that causes
intellectual and developmental
problems in children. It is handed down

What is Fragile
from parents to children. Martin-Bell
syndrome is another name for it.

X Syndrome?
• People with FXS typically have a variety
of developmental and learning issues.
• The illness is a life-long or chronic
ailment. Only a small percentage of
people with FXS can live independently.
C A U S E S
• The size of the mutation. Some people have a
smaller mutation (a lower number of repeats) in
their FMR1 gene, while others have big mutations (a
large number of repeats) in the gene. If the mutation is
small, the body may be able to make some of the • The number of cells that have the
protein. Having the protein available makes the mutation. Because not every cell in the body is
symptoms milder. exactly the same, some cells might have
the FMR1 mutation while others do not. This situation
is called mosaicism. If the mutation is in most of the
• Being female. Females have two X chromosomes body’s cells, the person will probably have symptoms
(XX), while males have only one. In females, if of Fragile X syndrome. If the mutation is in only some
the FMR1 gene on one X chromosome has the mutation, of the cells, the person might not have any symptoms
the FMR1 gene on the other X chromosome might not at all or only mild symptoms
have the mutation. Even if one of the female’s genes has
a very large mutation, the body can usually make at
least some FMRP, leading to milder symptoms.
What are the
Symptoms?
● Intelligence ● Physical. Most infants ● Speech and ● Sensory. ● Behavioral,
and learning. and younger children language. The Many children social, and
with Fragile X don’t majority of with Fragile X emotional. The
Intellectual
have any specific Fragile X boys are bothered by majority of
functioning is children with
physical features of this struggle with certain
an issue for syndrome. When these Fragile X
speech and sensations, such
many people children start to go language. as bright light, experience
with Fragile X. through puberty, loud noises, or behavioral
however, many will the way certain issues.
begin to develop certain clothing feels
features that are typical on their bodies.
of those with Fragile X.
Possible Treatment:

There are no treatments that address the underlying

neuronal defect caused by the lack of the Fragile X
mental retardation protein. Because the individual's
most problematic behaviors can have a considerable
impact on functionality in FXS, symptom-based
treatment of the individual's most problematic
behaviors can be extremely beneficial. Some symptoms
can be treated with educational, behavioral, or physical
therapy, as well as medications. Getting treatment as
soon as possible can help.
 CASE
SAMPLE
Case Number 1
A 14-year-old boy referred by general dental practitioner to the Department of Pedodontics and Preventive dentistry, SCB Dental College and
Hospital, Cuttack, Odisha, India, with a chief complaint of multiple teeth (extra teeth) in both upper and lower jaw. On clinical examination, it
was observed that the child exhibit behavioral disorders with autistic features. Extraoral features revealed an elongated and narrow face with a
large forehead and prominent chin Intraoral examination revealed multiple supernumerary teeth in relation to both upper and lower dental arch,
crowding, high-arch palate, macroglossia, cleft of palate, and multiple carious teeth. Panoramic radiographic evaluation revealed the presence
of multiple teeth in the anterior region of both maxillary and mandibular dental arch with congenital absence of teeth in relation to 18, 28, 38,
and 48. Parental history revealed that the child was delivered at term by lower segment cesarean section with a birth weight of 3.6 kg. He did
not cry immediately after birth, and hence, referred to Neonatal Intensive Care Unit for the further management. He subsequently developed
neonatal jaundice, for which treatment was assumed and discharged after 20 days. General physical examination revealed some typical
characteristic features such as an elongated face, prominent frontal bone, hypotonia, hyperlaxity of the ligaments and cognitive deficiency.
Pubertal stage was Tanner stage V with bilaterally enlarged testis (macroorchidism) with testicular volume >30 cc using Prader orchidometer
beads. There is a family history of mental retardation in his sibling. Due to the presence of mental retardation and characteristics somatic
features along with macroorchidism, a clinical diagnosis of FXS was ascertained with further consultation with endocrinologists. However, due
to lack of feasibility of genetic testing, it could not be performed in this case. Extraction of supernumerary teeth was planned after seeking an
opinion from the Department of Endocrinology, Cardiology, and Otolaryngology.
Case Number 4
A 10-year-old male presented with FXS, offspring of a woman with FXS carrier status. He had no history of systemic diseases or
infectious processes. There were no known drug allergies or toxic habits. The general physical examination revealed some
typical features of FXS, such as an elongated face, a prominent frontal bone, large ears and strabismus. In the same way as in
case 1, the patient had a low muscle tone, hyperlaxity of the ligaments, and cognitive deficiency, affecting language in
particular. This patient was referred to our Service for the correction of deficient buccodental hygiene that had produced mild
gingivitis, aggravated by a mouth breathing habit. However, this patient had not undergone previous dental treatment.
Exploration of the maxillas showed no facial asymmetry, and the patient presented bilateral class II division 1 malocclusion. As
intraoral characteristics typical of FXS, he presented an ogival palate, with increased dimensions of the molar crowns
(mesiodistal as well as vestibulolingual). The upper arch was V-shaped due to narrowing in the region of the premolars and
canine, together with protrusion or labioversion of the upper incisors that produced an anterior open bite. Muscle
abnormalities were also noted, with a hypotonic upper lip. The panoramic X-ray study (Fig.3) showed the germs of the
permanent teeth and the absence of supernumerary teeth. The X-ray view revealed taurodontism affecting 2.6 and 1.6, and
anomalous root morphology of unerupted 4.3. The germs of the upper and lower second molars were still partially within the
bone. Periodontal treatment was provided, and the need for orthodontic management was evaluated but rejected by the
parents.
Group Members:
RESEARCHERS:
Hannah Mikaella F. Balmores
Mary Grace B. Tan
Sophia Mae G. Barrido
REPORTERS:
Jess Paul J. Canto
Monica Ballesta Apuya
Fransez Jacques C. Marasigan
Joshua Capco
PPT:
Kaye Angeline Domingo
Sheelah Mari M. Baltazar
References:
Definition and Causes:
https://medlineplus.gov/genetics/condition/fragile-x-syndrome/
https://www.healthline.com/health/fragile-x-syndrome
https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/causes
Symptoms and Treatment:
https://www.healthline.com/health/fragile-x-syndrome
Cases:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754992/
http://staff.washington.edu/sbtrini/Teaching%20Cases/Case%2016.pdf
https://www.researchgate.net/publication/26777765_Fragile_X-
syndrome_Literature_review_and_report_of_two_cases/link/5b434cb1a6fdccbcf90
e6f08/download