Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 . Rare Disorders . Developmental Psychology Chapter 2 .

1. ORDERS
Rare
Genetic
DIS
Alisbo , Gonzales , Jeronilla , Lastrado , Nemenzo, Obelidon , Ocampo ,

2. Rare diseases (RDs) are
clinical conditions that only
affect a small percentage of
people in the general
population. Reliability in
epidemiological statistics
and clinical information are
lacking, which complicates
prompt diagnosis and
treatment planning.
FABRY DISEASE
06
01
02 ADRENOLEUKODYSTR
OPHY
03 ALBINISM
04 ATAXIA WITH
VITAMIN E
DEFICIENCY (AVED)
05 CYSTIC FIBROSIS
08 HURLER SYNDROME
HEMOPHILIA
07
ABLEPHARON-MACROSTOMIA
RARE
DISEASE
09 PHENYLKETONURIA
10 POMPE DISEASE
11 PROGERIA

3. ABLEPHARON
MACROSTOMIA
• Severe congenital disorder
that causes the complete loss
of both upper and lower
eyelids, lack of lip fusion,
which results in an enormous,
fish-like mouth, irregularly
shaped ears and noses,
absence of lanugo, ventral
hernias, and ambiguous
genitalia.

4. ADRENOLEUKODYSTROPHY
A type of hereditary (genetic)
condition that damages the
membrane (myelin sheath) that
insulates nerve cells in your
brain.
• In the Philippines there
are 15 documented cases
of ALD in the year of 2014.
Recent clinical reports
disclosed 5 patients of
childhood cerebral ALD

5. ALBINISM
• Albinism is a rare genetic disorder
caused by mutations of certain genes
that affect the amount of melanin
which your body produces (notably
present in the skin, hair, and eyes).
• The affected individuals usually have
a pale complexion, hair, and eyes.
These people are prone to sunburn
and skin cancer.

6. ATAXIA WITH VITAMIN
E DEFICIENCY (AVED)
• A rare progressive neurodegenerative
disorder affecting movement and motor
control caused by very low vitamin E level
in the blood.
• The manifestation of untreated ataxia
with vitamin E deficiency (AVED)
typically occurs during the age range of
five to 15 years.
• It can be inherited in autosomal
dominant, autosomal recessive, and X-
linked manner.

7. CYSTIC
FIBROSIS
(CF)
• A hereditary condition that typically
manifests itself in numerous organs
and/or systems of the body. Cystic
fibrosis is distinguished by
abnormalities that affect certain
glands (exocrine) in the body, in
particular those glands that are
responsible for the production of
mucus.

8. FABRY ( FA·BREE)
DISEASE (FD)
• A severe, progressive metabolic mistake that
begins in infancy and can be driven by
cellular malfunction and microvascular
pathology.
•It has 2 types the classical and late-onset.
•The symptoms in classical emerge during
childhood or adolescenes, while the late-
onset experience symptoms on their 30s or
older.
•Between 1999 and 2016, there are only 3
cases recorded. There is a cure for this disease.

9. HEMO
25K+
• A rare inherited bleeding disorder in
which the blood does not clot properly.
This can lead to spontaneous bleeding
as well as bleeding following injuries or
surgery.
• It is sometimes referred to as “the royal
disease,” because it affected the royal
families of England, Germany, Russia
and Spain in the 19th and 20th centuries.
• It happens when you don’t have enough
clotting factors to help control how
much you bleed.
PHILIA

10. HURLER
• Mucopolysaccharidosis (MPS) type 1 or
commonly known as Hurler’s
syndrome, is one of the eleven (11) MPS
disorders.
• Hurler syndrome is caused by
deficiency of the enzyme alpha-L-
iduronidase.
• As a result of the accumulation of
dermatan and heparan sulfate in
various organs which includes the
brain, eye, heart, liver, spleen, and bone
SYNDROME

11. PHENYLKETONURIA

12. POMPE DISEASE (
PAAM·PUH)

13. PROGERIA

14. THANKS
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