common types of genetic disorder

2. INHERITANCE OF
COMMON
PEDIATRIC
DISORDERS
SO GUESS
WHATS' MY
TOPIC......?

3. PRESENTED BY
ANINDITA MANDAL
MSC NURSING KIMS

4.  The pattern of inheritance is determined
by the genetic materials in the nuclei of
cells , which distributed into 23 pairs of
chromosomes . The portion of a
chrosome which codes for a character
is called a gene . The position of a gene
on a chromosome is called its locus.

5. Based on genetic mechanism,the disease may
be five types
1.Chromosomal disorders
2.Single gene disorders
3.Polygenic disorders
4.Mitochondrial disorders
5.Somatic cell disorders

10.  Chromosomes contain a large
number of genes.Loss /gain of a
whole chromosome due to
abnormalities in cell division may
cause profound disturbances in the
genetic constitution to the fetus and
affect its survival.

13. It is the most common chromosomal disorder ,
occurring with a frequency of 1:800 to 1:1000
newborns.
Chromosome number 21 is present in triplicate
the origin of the extra-chromosome 21 being
either maternal/paternal.

14.  Mothers conceiving at older age , the risk of
newborn is more.
 1:1550 if maternal age is between 15-29 year,
 1:800 at 30-34 year,
 1:270 at 35-39 year,
 1:100 at 40-44 year
 1:50 at above 46 year.

15.  Trisomy 21 is found in 94% cases.

16.  Mental retardation
 Physical retardation
 Flat facial profile
 Upward slant of eyes and
epicanthic folds
 Small nose with flat nasal
bridge

17.  Narrow short palate
with small teeth
 Protruding tongue
 Small skull with flat
occiput
 Small ears .

18.  Facial grimace on crying
 Hands are short and broad
 Clinodactyly (Hypoplasia of
middle phalanx of fifth finger)
 Simian crease
 Sandle gap

19.  Parents need support during first year of life and to
accept the child emotionally.
 Early training to help both mother and child i.e feeding
dressing , toilet training etc.
 Group therapy
 physiotherapy and speech therapy
 Associated problems like respiratory infections , cardiac
defect need to be treated as required.
 The major cause for early mortality is congenital heart
disease , almost 50% of those with cardiac anomalies
die in infancy.

21.  It is having 45X chromosomal constitution
 Incidence : is about 1:3000 newborns.
 Formation of isochromosome of long arms of
X chromosomes because of absence of short
arms.

24.  Ultrasound may streak ovaries and
hypoplastic uterus.
 Increased level of FSH and LH
 Hypothyroidism

25.  Monitoring of the height
 Regular measurement of Blood pressure
 Growth hormone therapy
 Thyroid testing should done at infancy/early
childhood if the child is lagging in growth as
per growth charts

26.  Counseling regarding behavioral problems
 Ovarian hormone replacement should started
around 14 yr.
 Conjugated estrogen at 0.3mg/day/ ethinyl
estradiol 5-10 mg/day is given for 3-6 months.
 Regular audiometry
 Ultrasonography

29. SUMMARY

30. CONCLUSION
A genetic disorder is a genetic
problem caused by one or more
abnormalities in the genome
,especially a condition that is present
from birth .
Most genetic disorders are quite rare
and affect one person in every
several thousands or millions.

31. BIBLIOGRAPHY :
1.Brar,Navdeep Kaur,Textbook of Advanced
Nursing Practice,first edition,2015, Jaypee
BrothersMedical Publishers.
2.Ghai,OP,Essential pediatrics,8th Edition,CBS
publication
3.Datta,parul,Pediatric Nursing,fourth
edition,Jaypee Brothers Medical Publishers.
4.Yadav manoj,Child health nursing,PV
Books,2011 edition.
5.www.genome.gov

32. Thank You All........