SlideShare a Scribd company logo
1 of 10
VERY IMPORTANT SYNDROME
-MAKWANA JAY P
DiGeorge syndrome (DGS)
comprises thymic hypoplasia,
hypocalcaemia, outflow tract
defects of the heart, and
dysmorphic facies. It results
in almost all cases from a
deletion within chromosome
22q11
is a rare, neurodevelopmental, genetic
condition characterized by many symptoms
including unique physical features, delayed
development, cognitive challenges and
cardiovascular abnormalities
Down syndrome is a condition in
which a person has an extra
chromosome or an extra piece of
a chromosome. This extra copy
changes how a baby's body and
brain develop. It can cause both
Turner syndrome, a condition
that affects only females, results
when one of the X chromosomes
(sex chromosomes) is missing or
partially missing. Turner
syndrome can cause a variety of
medical and developmental
problems, including short height,
failure of the ovaries to develop
and heart defects.
NOONAN SYNDROME
typically a genetically inherited
disorder with heterogeneous
phenotypic manifestations that
can change with age. The most
consistent features are wide-
set eyes, low-set ears, short
stature, and pulmonic stenosis.
Noonan syndrome is typically
inherited in an autosomal
dominant manner.
is a complex condition that
affects several parts of the
body. VATER (VACTERL) is an
acronym that stands for the
affected parts of the body
including the vertebrae, anus,
heart, trachea, esophagus,
kidney and limbs.
Holt-Oram syndrome is
characterized by skeletal
abnormalities of the hands
and arms (upper limbs) and
heart problems. People with
Holt-Oram syndrome have
CHARGE syndrome (CS) refers
to a pattern of birth defects
with a wide range of
conditions that can differ
from child to child. It is rare
and affects one in each
150,000 births worldwide. CS
is a very complex syndrome
which often involves:
Colobomas (a hole in the
Alagille syndrome is a genetic
disorder in which you have
fewer bile ducts than normal
in your liver. Alagille
syndrome can be passed
from parent to child or
happen naturally. Alagille
syndrome not only affects the
liver, it can also cause skin,

More Related Content

Similar to RARE SYNDROMES

Genetic & ;Development Disorders Down's syndrome.
Genetic & ;Development Disorders Down's syndrome.Genetic & ;Development Disorders Down's syndrome.
Genetic & ;Development Disorders Down's syndrome.Muhammadasif909
 
Diseases and abnormalities caused by mutation.pptx
Diseases and abnormalities caused by mutation.pptxDiseases and abnormalities caused by mutation.pptx
Diseases and abnormalities caused by mutation.pptxQueenieCuabo2
 
Down syndrome.pptx
Down syndrome.pptxDown syndrome.pptx
Down syndrome.pptxAnju Kumawat
 
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndromecraniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndromeFaryal Mangrio
 
Chromosomal aberrations
Chromosomal aberrationsChromosomal aberrations
Chromosomal aberrationsOmar Jacalne
 
Down syndrome
Down syndromeDown syndrome
Down syndromeasteinman
 
Down síndrome
Down síndromeDown síndrome
Down síndromealiciadiez
 
 Genetic deseases. Down syndrome
 Genetic deseases. Down syndrome Genetic deseases. Down syndrome
 Genetic deseases. Down syndromeFeko91
 
What is down syndrome
What is down syndromeWhat is down syndrome
What is down syndromesamg67
 
What is down syndrome
What is down syndromeWhat is down syndrome
What is down syndromesamg67
 
Having a Child with Down syndrome
Having a Child with Down syndromeHaving a Child with Down syndrome
Having a Child with Down syndromeArie Dewi M Arif's
 
Chromosomal abnormalities
Chromosomal abnormalitiesChromosomal abnormalities
Chromosomal abnormalitiesNusrat Zerin
 

Similar to RARE SYNDROMES (20)

GENETIC DISORDERS
GENETIC DISORDERSGENETIC DISORDERS
GENETIC DISORDERS
 
Down Syndrome
Down Syndrome Down Syndrome
Down Syndrome
 
Genetic & ;Development Disorders Down's syndrome.
Genetic & ;Development Disorders Down's syndrome.Genetic & ;Development Disorders Down's syndrome.
Genetic & ;Development Disorders Down's syndrome.
 
Genetic Diseases
Genetic DiseasesGenetic Diseases
Genetic Diseases
 
Diseases and abnormalities caused by mutation.pptx
Diseases and abnormalities caused by mutation.pptxDiseases and abnormalities caused by mutation.pptx
Diseases and abnormalities caused by mutation.pptx
 
Down syndrome.pptx
Down syndrome.pptxDown syndrome.pptx
Down syndrome.pptx
 
craniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndromecraniofacial anomalies down , apert's and gorlin goltz syndrome
craniofacial anomalies down , apert's and gorlin goltz syndrome
 
Chromosomal aberrations
Chromosomal aberrationsChromosomal aberrations
Chromosomal aberrations
 
Down syndrome
Down syndromeDown syndrome
Down syndrome
 
Down síndrome
Down síndromeDown síndrome
Down síndrome
 
AARSKOOG SYNDROME
AARSKOOG SYNDROMEAARSKOOG SYNDROME
AARSKOOG SYNDROME
 
 Genetic deseases. Down syndrome
 Genetic deseases. Down syndrome Genetic deseases. Down syndrome
 Genetic deseases. Down syndrome
 
Down syndrome
Down syndromeDown syndrome
Down syndrome
 
What is down syndrome
What is down syndromeWhat is down syndrome
What is down syndrome
 
What is down syndrome
What is down syndromeWhat is down syndrome
What is down syndrome
 
Having a Child with Down syndrome
Having a Child with Down syndromeHaving a Child with Down syndrome
Having a Child with Down syndrome
 
Digeorge syndrome
Digeorge syndromeDigeorge syndrome
Digeorge syndrome
 
Down syndrome
Down syndromeDown syndrome
Down syndrome
 
DOWN SYNDROME.pptx
DOWN SYNDROME.pptxDOWN SYNDROME.pptx
DOWN SYNDROME.pptx
 
Chromosomal abnormalities
Chromosomal abnormalitiesChromosomal abnormalities
Chromosomal abnormalities
 

More from Home

Psoriasis 1.pptx
Psoriasis 1.pptxPsoriasis 1.pptx
Psoriasis 1.pptxHome
 
Neuro.docx
Neuro.docxNeuro.docx
Neuro.docxHome
 
Cardio-Pulmonary.docx
Cardio-Pulmonary.docxCardio-Pulmonary.docx
Cardio-Pulmonary.docxHome
 
Ortho Assessment.docx
Ortho Assessment.docxOrtho Assessment.docx
Ortho Assessment.docxHome
 
heart ( Cardiac condition).pptx
heart ( Cardiac condition).pptxheart ( Cardiac condition).pptx
heart ( Cardiac condition).pptxHome
 
Bells palsy.pptx
Bells palsy.pptxBells palsy.pptx
Bells palsy.pptxHome
 
Crystalline Arthropathy.docx
Crystalline Arthropathy.docxCrystalline Arthropathy.docx
Crystalline Arthropathy.docxHome
 
Osteoarthritis
OsteoarthritisOsteoarthritis
OsteoarthritisHome
 
Corona virus
Corona virusCorona virus
Corona virusHome
 
Cerebral Palsy
Cerebral PalsyCerebral Palsy
Cerebral PalsyHome
 
Rheumatic arthritis
Rheumatic arthritisRheumatic arthritis
Rheumatic arthritisHome
 
Copd1
Copd1Copd1
Copd1Home
 

More from Home (12)

Psoriasis 1.pptx
Psoriasis 1.pptxPsoriasis 1.pptx
Psoriasis 1.pptx
 
Neuro.docx
Neuro.docxNeuro.docx
Neuro.docx
 
Cardio-Pulmonary.docx
Cardio-Pulmonary.docxCardio-Pulmonary.docx
Cardio-Pulmonary.docx
 
Ortho Assessment.docx
Ortho Assessment.docxOrtho Assessment.docx
Ortho Assessment.docx
 
heart ( Cardiac condition).pptx
heart ( Cardiac condition).pptxheart ( Cardiac condition).pptx
heart ( Cardiac condition).pptx
 
Bells palsy.pptx
Bells palsy.pptxBells palsy.pptx
Bells palsy.pptx
 
Crystalline Arthropathy.docx
Crystalline Arthropathy.docxCrystalline Arthropathy.docx
Crystalline Arthropathy.docx
 
Osteoarthritis
OsteoarthritisOsteoarthritis
Osteoarthritis
 
Corona virus
Corona virusCorona virus
Corona virus
 
Cerebral Palsy
Cerebral PalsyCerebral Palsy
Cerebral Palsy
 
Rheumatic arthritis
Rheumatic arthritisRheumatic arthritis
Rheumatic arthritis
 
Copd1
Copd1Copd1
Copd1
 

Recently uploaded

College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...
College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...
College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...perfect solution
 
Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...
Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...
Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...vidya singh
 
(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...
(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...
(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...parulsinha
 
VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...
VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...
VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...jageshsingh5554
 
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...astropune
 
Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...
Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...
Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...Dipal Arora
 
(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...
(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...
(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...Taniya Sharma
 
💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...
💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...
💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...Taniya Sharma
 
Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...
Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...
Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...Genuine Call Girls
 
Call Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service AvailableCall Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service AvailableDipal Arora
 
VIP Call Girls Indore Kirti 💚😋 9256729539 🚀 Indore Escorts
VIP Call Girls Indore Kirti 💚😋  9256729539 🚀 Indore EscortsVIP Call Girls Indore Kirti 💚😋  9256729539 🚀 Indore Escorts
VIP Call Girls Indore Kirti 💚😋 9256729539 🚀 Indore Escortsaditipandeya
 
Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...
Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...
Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...Call Girls in Nagpur High Profile
 
Premium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort Service
Premium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort ServicePremium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort Service
Premium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort Servicevidya singh
 
Call Girls Gwalior Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 9907093804 Top Class Call Girl Service AvailableCall Girls Gwalior Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 9907093804 Top Class Call Girl Service AvailableDipal Arora
 
Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...
Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...
Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...Dipal Arora
 
Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...
Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...
Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...hotbabesbook
 
Call Girls Gwalior Just Call 8617370543 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 8617370543 Top Class Call Girl Service AvailableCall Girls Gwalior Just Call 8617370543 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 8617370543 Top Class Call Girl Service AvailableDipal Arora
 
Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...
Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...
Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...tanya dube
 
Top Rated Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...
Top Rated  Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...Top Rated  Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...
Top Rated Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...chandars293
 
Call Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service AvailableCall Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service AvailableDipal Arora
 

Recently uploaded (20)

College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...
College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...
College Call Girls in Haridwar 9667172968 Short 4000 Night 10000 Best call gi...
 
Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...
Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...
Manyata Tech Park ( Call Girls ) Bangalore ✔ 6297143586 ✔ Hot Model With Sexy...
 
(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...
(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...
(Low Rate RASHMI ) Rate Of Call Girls Jaipur ❣ 8445551418 ❣ Elite Models & Ce...
 
VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...
VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...
VIP Service Call Girls Sindhi Colony 📳 7877925207 For 18+ VIP Call Girl At Th...
 
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...
 
Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...
Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...
Call Girls Bhubaneswar Just Call 9907093804 Top Class Call Girl Service Avail...
 
(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...
(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...
(👑VVIP ISHAAN ) Russian Call Girls Service Navi Mumbai🖕9920874524🖕Independent...
 
💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...
💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...
💎VVIP Kolkata Call Girls Parganas🩱7001035870🩱Independent Girl ( Ac Rooms Avai...
 
Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...
Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...
Pondicherry Call Girls Book Now 9630942363 Top Class Pondicherry Escort Servi...
 
Call Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service AvailableCall Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Coimbatore Just Call 9907093804 Top Class Call Girl Service Available
 
VIP Call Girls Indore Kirti 💚😋 9256729539 🚀 Indore Escorts
VIP Call Girls Indore Kirti 💚😋  9256729539 🚀 Indore EscortsVIP Call Girls Indore Kirti 💚😋  9256729539 🚀 Indore Escorts
VIP Call Girls Indore Kirti 💚😋 9256729539 🚀 Indore Escorts
 
Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...
Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...
Book Paid Powai Call Girls Mumbai 𖠋 9930245274 𖠋Low Budget Full Independent H...
 
Premium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort Service
Premium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort ServicePremium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort Service
Premium Call Girls Cottonpet Whatsapp 7001035870 Independent Escort Service
 
Call Girls Gwalior Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 9907093804 Top Class Call Girl Service AvailableCall Girls Gwalior Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 9907093804 Top Class Call Girl Service Available
 
Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...
Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...
Best Rate (Guwahati ) Call Girls Guwahati ⟟ 8617370543 ⟟ High Class Call Girl...
 
Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...
Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...
Night 7k to 12k Chennai City Center Call Girls 👉👉 7427069034⭐⭐ 100% Genuine E...
 
Call Girls Gwalior Just Call 8617370543 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 8617370543 Top Class Call Girl Service AvailableCall Girls Gwalior Just Call 8617370543 Top Class Call Girl Service Available
Call Girls Gwalior Just Call 8617370543 Top Class Call Girl Service Available
 
Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...
Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...
Premium Bangalore Call Girls Jigani Dail 6378878445 Escort Service For Hot Ma...
 
Top Rated Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...
Top Rated  Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...Top Rated  Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...
Top Rated Hyderabad Call Girls Erragadda ⟟ 6297143586 ⟟ Call Me For Genuine ...
 
Call Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service AvailableCall Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service Available
Call Girls Aurangabad Just Call 9907093804 Top Class Call Girl Service Available
 

RARE SYNDROMES

  • 2. DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11
  • 3. is a rare, neurodevelopmental, genetic condition characterized by many symptoms including unique physical features, delayed development, cognitive challenges and cardiovascular abnormalities
  • 4. Down syndrome is a condition in which a person has an extra chromosome or an extra piece of a chromosome. This extra copy changes how a baby's body and brain develop. It can cause both
  • 5. Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
  • 6. NOONAN SYNDROME typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide- set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner.
  • 7. is a complex condition that affects several parts of the body. VATER (VACTERL) is an acronym that stands for the affected parts of the body including the vertebrae, anus, heart, trachea, esophagus, kidney and limbs.
  • 8. Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have
  • 9. CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. It is rare and affects one in each 150,000 births worldwide. CS is a very complex syndrome which often involves: Colobomas (a hole in the
  • 10. Alagille syndrome is a genetic disorder in which you have fewer bile ducts than normal in your liver. Alagille syndrome can be passed from parent to child or happen naturally. Alagille syndrome not only affects the liver, it can also cause skin,