Definition This disease is considered rare X-linked dominant disease. It is characterized by intrauterine growth slowdown size of head remain very small cerebellar hypoplasia,

2. Topic
 Hoyeraal-Hreidarsson Syndrome

3. Content
 Definition
 Other clinical demonstration
 Case reported
 Causes
 Symptoms of Hoyeraal-Hreidarsson Syndrome
 Diagnosis
 Hereditary counseling
 How is Hoyeraal-Hreidarsson Syndrome Treated?
 Medicine
 How can Hoyeraal-Hreidarsson Disorder be Prevented
 Birth rate in Hoyeraal-Hreidarsson Syndrome?

4. What is Hoyeraal-
Hreidarsson
Syndrome
 Definition
 This disease is considered rare X-
linked dominant disease.
 It is characterized by intrauterine
growth slowdown size of head
remain very small cerebellar
hypoplasia,
 Immune system become weak and
aplastic anaemia which is caused
by lack of blood due to weakness
of bone marrow

5. Other clinical
demonstration
 Microcephaly,(disease in which head
of individual remain very small )
 Mucocutaneous lesions (high
coloration)
 ,Degeneration of nail take place
 Premalignant leucoplakia affecting
tongue and gastrointestinal mucosa

6. Case
reported
First case of Hoyeraal-Hreidarsson
Syndrome is reported in 1970
Case
Second case reported in 1988
Case
Third case of this disease reported in
1990
Case

7. Causes
 Failure in bone marrow
 Length Telomere in Hoyeraal
Hreidarsson disorder
 Genetic and molecular fault

8. Length Telomere in Hoyeraal Hreidarsson
disorder
 Telomere Length is less than 1 percentile for age,
measured by stream ketometry with fluorescent in
setotehjin (stream angle), 95% touchy and particular to
DC and their wellbeing with other genetic BMF intense
 Relatives or patients with HH are more likely to be DC
patients . Timon length in HH patients compared with
age-related patients

9. Genetic and molecular fault in Hoyeraal hreidarsson syndrome
 First, Knight recognized transformations within the quiet
depicted by Aalfs et al in DKC1 in 1995 and in four extra HH
patients.
 As DKC1 was to begin with found in X-linked DC (Hess et al,
1998), he proposed that HHS speaks to an intense sort of DC.
Too, the same year, appeared that Descaran was a component
of the telomerase run complex, which is included within the
reclamation of thymus length, and appeared that the brief
component by DKC1

10. Continue
 These discoveries have been appeared to be connected to DC
and HH illnesses due to insufficient levels of telomerase run
complex due to lacking levels of the telomerase run complex
.

11. Symptoms of
Hoyeraal-
Hreidarsson
Syndrome
 80-89 % indications of Hoyeraal-
Hreidarsson Disorder cases
1. Cerebellar remain small as usual.
2. Skin remains very thin.
3. Immune system become weak, and
individual do not fight against disease.
4. Individual with dull mind.
5. Fetus growth do not properly.
6. Head remain small than normal.
7. Deficiency in platelets in blood and
bleeding take place from tissue on
brushing or on minute cut

12. continue
 Symptoms that is present in 30-79% of cases
 Blood do not clot if minute cut take place and risk of bleeding
increase
 Lack of red blood cell, due to lack of red blood cell carrying of
oxygen do not take place properly and man feel tired
 Loss of connection of posterior par of brain
 A lot of wrinkled present on skin of individual who are suffered
from this disease. Generalized hair become light in color.
 Hypertonia (patients move leg or arm difficulty

13. Continue…
 Nail become misshape change in texture and composition.
 Oral leucoplakia
 Hair become grey before reaching mature.
 Number of hair start to decrease.
 Ventricle of brain is large than normal

14. Continue
 Occasionally present symptoms in 5-29% of the cases:
 White blood cell does not remain normal and problem create
in immune system
 Ataxia (lose of arm muscle
 Number of cell in bone marrow decrease.

15. Continue…
 Abnormal deposition of calcium in blood vessel aww of brain.
 A patient with this disease muscle become less responsive for
stimuli.
 Chance of tumor are also increase

16. Diagnosis
1. Prenatal diagnosis
 First, prenatal imaging diagnosis is done for the
conformation of baby growth failure in womb and
cerebellar hypoplasia
 If this disease present family prenatal genetic testing
can be suggested to detected abnormality in gene.

17. Continue
 MRI Image
 Three-dimensional (3d) T2 slanted
(T2w), bad magnetic resonance
imaging (MRS) is a good way to
differentiate between grayish
material and white matter to urge
clear physical data
 . Q, Pivotal + MPR imaging for
determination of cranial nerves,
ventricles, and foramen. Sahar
weight pivotal distinguishing proof
and characteristics of drain, blood
tall level to amassing of calcium and
iron.

18. Hereditary
counseling
The HHS bequest takes after an X-
linked recursive design.
The clutter is exceptionally
seldom acquired as a self-
recuperative form.
Many therapeutic conditions can
have comparative signs and
indications

19. Testing resources
 The Hereditary Testing Registry (APR)
gives data on hereditary testing for this
condition.
The required group of onlookers for
serving are healthcare suppliers and
analysts

20. Complication
 Failure to progress
 Severe neurological abnormalities
 In some cases, the development of cancer

21. How is Hoyeraal-Hreidarsson Syndrome Treated?
 Treatment of iron deficiency and need of the capacity of
insusceptibility can be by bone marrow transplantation
 Strong treatment for gastrointestinal complications and
contaminations is essential amid the brief term

22. Medicine
 Oxymetholone, An Anabolic Steroid Increases Red
Blood Cell Production.
 Neopagan, a granulocyte colony-activating factor
that maximizes bone marrow blood cells

23. How can Hoyeraal-Hreidarsson Disorder be
Prevented?
 Hareid's disorder isn't treatable because it may be a
hereditary clutter.
 Hereditary testing of planned guardians (and
related family individuals) and early conclusion
(atomic testing of the baby during pregnancy) may
aid superior get it the dangers amid pregnancy

24. Birth rate in Hoyeraal-Hreidarsson Syndrome?
 The prognosis of Hoyeraal Hreidarsson Syndrome is
done at very poor level as patient died in premature
life due to failure in bone marrow