SlideShare a Scribd company logo
1 of 12
RARE DISEASE IN
HUMAN
PROGERIA
•Progeria is a genetic
condition where aging of the
patient begins in childhood
•It is not inherited disease in
most of the cases and is an
incurable disease
•The abnormal development
of body parts like bulging
eyes, abnormally small face
and wrinkled skin
WATER ALLERGY
•Also known as aquagenic
urticaria, this disease is
extremely rare and has
affected only 30 people till
date
•It is caused due to
hormonal imbalance
brought about by giving
birth
KURU
•Also known as laughing
death
•It was found only amongst
the tribal fore people of new
guinea
•The main symptoms of the
disease is sudden burst of
maniacal laughter which
ultimately leads to death with
a hole in the brain
PORPHYRIA
• porphyria is affecting skin
and nervous system
•Common symptoms of this
disease are vomiting,
abdominal pain, stomach
disorder, increasing
sensitivity of sun, swelling,
itching and nausea
•In few cases, the hair
growth of forehead increase
FATAL FAMILIAL INSOMNIA
•FFI starts with a mysterious
sleeplessness starting from
middle age and rapidly develops
as the person old
•Till date this disorder has only
been found only in 40 families
worldwide
•It is rare genetic sleep disorder
•The main symptoms inability of
sleep, high pulse, blood pressure
and excessive sweating
ALIEN HAND SYNDROME
•AHS is a rare disorder in
which neurologically one
hand function involuntaily
•The terrible symptoms
include uncontrolled
reaching and grasping for
things ,touching face or
tearing of clothes
•This disorder occurs after
conditions like brain surgery,
infection ,storke, tumor
ARGYRIA
•It is known as blue skin
disorder
•It is inherited disorder
which give their skin is blue
or purple color
•Medically known as
methemoglobinemia
•The main symptoms
include shortness of
breath, headache, fatigue
and mental changes
HEREDITARY ANGIOEDEMA
•HAE is an inherited disorder
•The symptoms include
recurrent episodes of
swellings
•The swelling due to
accumulation of fluids
outside the blood vessels,
jamming the normal flow of
either blood or fluid which
causes the rapid swelling
HYPERTRICHOSIS
•Also known as werewolf
syndrome, it is medical
hormonal imbalance which
triggers an unusual amount
of hair growth on the body
•It can occur in male or
female anyone
•It can be over entire body, or
in one or more areas and not
innate
HUMAN PAPPILOMA VIRUS
•HPV is a skin disorder which
is lifelong
•HPV is extremely rare and
only 195 cases in the world
•It is due to some
immunodeficiency which
results into a typical skin
disorder, mostly severe
Rare disease in human

More Related Content

What's hot

Symptomatology of endocrinology2012
Symptomatology of endocrinology2012Symptomatology of endocrinology2012
Symptomatology of endocrinology2012
İsmail Şimşek
 
Thyroid Dysfunction.ppt
Thyroid Dysfunction.pptThyroid Dysfunction.ppt
Thyroid Dysfunction.ppt
Shama
 
Endocrine disorder
Endocrine disorderEndocrine disorder
Endocrine disorder
specialclass
 

What's hot (20)

Sheehan syndroms
Sheehan syndromsSheehan syndroms
Sheehan syndroms
 
Sheehan's syndrome
Sheehan's syndromeSheehan's syndrome
Sheehan's syndrome
 
Endocrine disorders and children
Endocrine disorders and childrenEndocrine disorders and children
Endocrine disorders and children
 
Pit Tumors 2009 Part Ii
Pit Tumors 2009 Part IiPit Tumors 2009 Part Ii
Pit Tumors 2009 Part Ii
 
Symptomatology of endocrinology2012
Symptomatology of endocrinology2012Symptomatology of endocrinology2012
Symptomatology of endocrinology2012
 
TOF
TOFTOF
TOF
 
Common Endocrine Disorders
Common Endocrine DisordersCommon Endocrine Disorders
Common Endocrine Disorders
 
Beers and brains
Beers and brainsBeers and brains
Beers and brains
 
Hypoglycemia
HypoglycemiaHypoglycemia
Hypoglycemia
 
Hypothyroidism
HypothyroidismHypothyroidism
Hypothyroidism
 
Endocrine system diseases
Endocrine system diseasesEndocrine system diseases
Endocrine system diseases
 
Sony downsyndrom
Sony downsyndromSony downsyndrom
Sony downsyndrom
 
Sheehan syndrome jsha
Sheehan syndrome jshaSheehan syndrome jsha
Sheehan syndrome jsha
 
ANEMIA
ANEMIAANEMIA
ANEMIA
 
Rohhad syndrom
Rohhad syndromRohhad syndrom
Rohhad syndrom
 
Disorders of pituitary_gland-
Disorders of pituitary_gland-Disorders of pituitary_gland-
Disorders of pituitary_gland-
 
Prognosis and complications of eclampsia
Prognosis and complications of eclampsiaPrognosis and complications of eclampsia
Prognosis and complications of eclampsia
 
Thyroid Dysfunction.ppt
Thyroid Dysfunction.pptThyroid Dysfunction.ppt
Thyroid Dysfunction.ppt
 
ROHHAD Syndrome
ROHHAD SyndromeROHHAD Syndrome
ROHHAD Syndrome
 
Endocrine disorder
Endocrine disorderEndocrine disorder
Endocrine disorder
 

Similar to Rare disease in human

05. evaluation of thyroid gland
05. evaluation of thyroid gland05. evaluation of thyroid gland
05. evaluation of thyroid gland
Fahad Zakwan
 
Endocrine system diabetes thyroid disease and hormones by rakesh rana converted
Endocrine system diabetes thyroid disease and hormones by rakesh rana convertedEndocrine system diabetes thyroid disease and hormones by rakesh rana converted
Endocrine system diabetes thyroid disease and hormones by rakesh rana converted
RakeshRana54
 
Presentation 6
Presentation 6Presentation 6
Presentation 6
donnalaon
 

Similar to Rare disease in human (20)

top 10 rarest diseases
top 10 rarest diseasestop 10 rarest diseases
top 10 rarest diseases
 
05. evaluation of thyroid gland
05. evaluation of thyroid gland05. evaluation of thyroid gland
05. evaluation of thyroid gland
 
Hypothyroidism in children
Hypothyroidism in childrenHypothyroidism in children
Hypothyroidism in children
 
HYPERHIDROSIS11.pptx
HYPERHIDROSIS11.pptxHYPERHIDROSIS11.pptx
HYPERHIDROSIS11.pptx
 
10 Weirdest Medical Conditions
10 Weirdest Medical Conditions10 Weirdest Medical Conditions
10 Weirdest Medical Conditions
 
6.2 Human Genetic Disorders 2019
6.2 Human Genetic Disorders 20196.2 Human Genetic Disorders 2019
6.2 Human Genetic Disorders 2019
 
Endocrine chart by Pandian M
Endocrine chart by Pandian MEndocrine chart by Pandian M
Endocrine chart by Pandian M
 
GIGANTISM,AND OTHER ENDOCRINE DISEASES OF BONE
GIGANTISM,AND OTHER ENDOCRINE DISEASES OF BONEGIGANTISM,AND OTHER ENDOCRINE DISEASES OF BONE
GIGANTISM,AND OTHER ENDOCRINE DISEASES OF BONE
 
Endocrine system diabetes thyroid disease and hormones by rakesh rana converted
Endocrine system diabetes thyroid disease and hormones by rakesh rana convertedEndocrine system diabetes thyroid disease and hormones by rakesh rana converted
Endocrine system diabetes thyroid disease and hormones by rakesh rana converted
 
Skin of internal
Skin of internalSkin of internal
Skin of internal
 
Skin of internal
Skin of internalSkin of internal
Skin of internal
 
Hypopigmentation Disorders
Hypopigmentation DisordersHypopigmentation Disorders
Hypopigmentation Disorders
 
rashes - different types of rashes & diagnosis
rashes - different types of rashes & diagnosisrashes - different types of rashes & diagnosis
rashes - different types of rashes & diagnosis
 
GBS.pptx
GBS.pptxGBS.pptx
GBS.pptx
 
Hyperthyroidism
HyperthyroidismHyperthyroidism
Hyperthyroidism
 
Disorders of pigmentation
Disorders of pigmentationDisorders of pigmentation
Disorders of pigmentation
 
Presentation 6
Presentation 6Presentation 6
Presentation 6
 
Endocrine disorders ppt- dr. r. mallika
Endocrine disorders  ppt- dr. r. mallikaEndocrine disorders  ppt- dr. r. mallika
Endocrine disorders ppt- dr. r. mallika
 
disoders of sweat glands.pptx
disoders of sweat glands.pptxdisoders of sweat glands.pptx
disoders of sweat glands.pptx
 
Measle Dr Saleem Sharif Medical City Hospital Lahore Peads Department.pptx
Measle Dr Saleem Sharif Medical City Hospital Lahore Peads Department.pptxMeasle Dr Saleem Sharif Medical City Hospital Lahore Peads Department.pptx
Measle Dr Saleem Sharif Medical City Hospital Lahore Peads Department.pptx
 

Recently uploaded

Beyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global ImpactBeyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global Impact
PECB
 
The basics of sentences session 2pptx copy.pptx
The basics of sentences session 2pptx copy.pptxThe basics of sentences session 2pptx copy.pptx
The basics of sentences session 2pptx copy.pptx
heathfieldcps1
 
1029 - Danh muc Sach Giao Khoa 10 . pdf
1029 -  Danh muc Sach Giao Khoa 10 . pdf1029 -  Danh muc Sach Giao Khoa 10 . pdf
1029 - Danh muc Sach Giao Khoa 10 . pdf
QucHHunhnh
 
Gardella_Mateo_IntellectualProperty.pdf.
Gardella_Mateo_IntellectualProperty.pdf.Gardella_Mateo_IntellectualProperty.pdf.
Gardella_Mateo_IntellectualProperty.pdf.
MateoGardella
 
Russian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in Delhi
Russian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in DelhiRussian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in Delhi
Russian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in Delhi
kauryashika82
 
An Overview of Mutual Funds Bcom Project.pdf
An Overview of Mutual Funds Bcom Project.pdfAn Overview of Mutual Funds Bcom Project.pdf
An Overview of Mutual Funds Bcom Project.pdf
SanaAli374401
 
Activity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdfActivity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdf
ciinovamais
 

Recently uploaded (20)

microwave assisted reaction. General introduction
microwave assisted reaction. General introductionmicrowave assisted reaction. General introduction
microwave assisted reaction. General introduction
 
Beyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global ImpactBeyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global Impact
 
The basics of sentences session 2pptx copy.pptx
The basics of sentences session 2pptx copy.pptxThe basics of sentences session 2pptx copy.pptx
The basics of sentences session 2pptx copy.pptx
 
Advance Mobile Application Development class 07
Advance Mobile Application Development class 07Advance Mobile Application Development class 07
Advance Mobile Application Development class 07
 
Paris 2024 Olympic Geographies - an activity
Paris 2024 Olympic Geographies - an activityParis 2024 Olympic Geographies - an activity
Paris 2024 Olympic Geographies - an activity
 
1029 - Danh muc Sach Giao Khoa 10 . pdf
1029 -  Danh muc Sach Giao Khoa 10 . pdf1029 -  Danh muc Sach Giao Khoa 10 . pdf
1029 - Danh muc Sach Giao Khoa 10 . pdf
 
Gardella_Mateo_IntellectualProperty.pdf.
Gardella_Mateo_IntellectualProperty.pdf.Gardella_Mateo_IntellectualProperty.pdf.
Gardella_Mateo_IntellectualProperty.pdf.
 
fourth grading exam for kindergarten in writing
fourth grading exam for kindergarten in writingfourth grading exam for kindergarten in writing
fourth grading exam for kindergarten in writing
 
How to Give a Domain for a Field in Odoo 17
How to Give a Domain for a Field in Odoo 17How to Give a Domain for a Field in Odoo 17
How to Give a Domain for a Field in Odoo 17
 
Russian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in Delhi
Russian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in DelhiRussian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in Delhi
Russian Escort Service in Delhi 11k Hotel Foreigner Russian Call Girls in Delhi
 
An Overview of Mutual Funds Bcom Project.pdf
An Overview of Mutual Funds Bcom Project.pdfAn Overview of Mutual Funds Bcom Project.pdf
An Overview of Mutual Funds Bcom Project.pdf
 
Web & Social Media Analytics Previous Year Question Paper.pdf
Web & Social Media Analytics Previous Year Question Paper.pdfWeb & Social Media Analytics Previous Year Question Paper.pdf
Web & Social Media Analytics Previous Year Question Paper.pdf
 
ICT Role in 21st Century Education & its Challenges.pptx
ICT Role in 21st Century Education & its Challenges.pptxICT Role in 21st Century Education & its Challenges.pptx
ICT Role in 21st Century Education & its Challenges.pptx
 
Código Creativo y Arte de Software | Unidad 1
Código Creativo y Arte de Software | Unidad 1Código Creativo y Arte de Software | Unidad 1
Código Creativo y Arte de Software | Unidad 1
 
Unit-IV- Pharma. Marketing Channels.pptx
Unit-IV- Pharma. Marketing Channels.pptxUnit-IV- Pharma. Marketing Channels.pptx
Unit-IV- Pharma. Marketing Channels.pptx
 
Mattingly "AI & Prompt Design: Structured Data, Assistants, & RAG"
Mattingly "AI & Prompt Design: Structured Data, Assistants, & RAG"Mattingly "AI & Prompt Design: Structured Data, Assistants, & RAG"
Mattingly "AI & Prompt Design: Structured Data, Assistants, & RAG"
 
Mattingly "AI & Prompt Design: The Basics of Prompt Design"
Mattingly "AI & Prompt Design: The Basics of Prompt Design"Mattingly "AI & Prompt Design: The Basics of Prompt Design"
Mattingly "AI & Prompt Design: The Basics of Prompt Design"
 
Activity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdfActivity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdf
 
Z Score,T Score, Percential Rank and Box Plot Graph
Z Score,T Score, Percential Rank and Box Plot GraphZ Score,T Score, Percential Rank and Box Plot Graph
Z Score,T Score, Percential Rank and Box Plot Graph
 
Advanced Views - Calendar View in Odoo 17
Advanced Views - Calendar View in Odoo 17Advanced Views - Calendar View in Odoo 17
Advanced Views - Calendar View in Odoo 17
 

Rare disease in human

  • 2. PROGERIA •Progeria is a genetic condition where aging of the patient begins in childhood •It is not inherited disease in most of the cases and is an incurable disease •The abnormal development of body parts like bulging eyes, abnormally small face and wrinkled skin
  • 3. WATER ALLERGY •Also known as aquagenic urticaria, this disease is extremely rare and has affected only 30 people till date •It is caused due to hormonal imbalance brought about by giving birth
  • 4. KURU •Also known as laughing death •It was found only amongst the tribal fore people of new guinea •The main symptoms of the disease is sudden burst of maniacal laughter which ultimately leads to death with a hole in the brain
  • 5. PORPHYRIA • porphyria is affecting skin and nervous system •Common symptoms of this disease are vomiting, abdominal pain, stomach disorder, increasing sensitivity of sun, swelling, itching and nausea •In few cases, the hair growth of forehead increase
  • 6. FATAL FAMILIAL INSOMNIA •FFI starts with a mysterious sleeplessness starting from middle age and rapidly develops as the person old •Till date this disorder has only been found only in 40 families worldwide •It is rare genetic sleep disorder •The main symptoms inability of sleep, high pulse, blood pressure and excessive sweating
  • 7. ALIEN HAND SYNDROME •AHS is a rare disorder in which neurologically one hand function involuntaily •The terrible symptoms include uncontrolled reaching and grasping for things ,touching face or tearing of clothes •This disorder occurs after conditions like brain surgery, infection ,storke, tumor
  • 8. ARGYRIA •It is known as blue skin disorder •It is inherited disorder which give their skin is blue or purple color •Medically known as methemoglobinemia •The main symptoms include shortness of breath, headache, fatigue and mental changes
  • 9. HEREDITARY ANGIOEDEMA •HAE is an inherited disorder •The symptoms include recurrent episodes of swellings •The swelling due to accumulation of fluids outside the blood vessels, jamming the normal flow of either blood or fluid which causes the rapid swelling
  • 10. HYPERTRICHOSIS •Also known as werewolf syndrome, it is medical hormonal imbalance which triggers an unusual amount of hair growth on the body •It can occur in male or female anyone •It can be over entire body, or in one or more areas and not innate
  • 11. HUMAN PAPPILOMA VIRUS •HPV is a skin disorder which is lifelong •HPV is extremely rare and only 195 cases in the world •It is due to some immunodeficiency which results into a typical skin disorder, mostly severe