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Line 170: − + + + + − • Skin lesions (kushtha): Skin lesions resembling the petal of lotus(pundarika), fruit of Abrus pricatorius (kakanaka)[Su. Sa. Nidana Sthana 5/19] and congenital skin patches of different size, shape and colour.[Su. Sa. Nidana Sthana 13/41-44]+ − • Hemorrhoids (arsha)[ Su. Sa. Sutra Sthana 24/5]+ − • Obstinate urinary disorders (prameha)[ Su. Sa. Sutra Sthana 24/5]+ − • Emaciation (karshya/kshaya) [Dalhana, Su. Sa. Sutra Sthana 24/5]+ − • Shandi yoni vyapad (female without sexual desire and undeveloped breasts) is caused due to abnormalities in male and female gametes (beeja dosha) and affliction of the uterus by vitiated vata dsoha. [Cha. Sa. [[Chikitsa Sthana]] 30/34-35] This condition is similar to the chromosomal disorder known as “Turner’s syndrome”.+ − • The defects in the sperm (shukra) cause deformities in factors related to paternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30-31]+ − + + + + + + + + + + − • Limb deformities (pangu)+ − • Congenital blindness (jatyandhya)+ − • Deafness (badhira)+ − • Dumbness (mooka)+ − • Nasal voice (minmina)+ − • Dwarfism (vaamana)+ + + + + + + + − Female Vitiated factor Outcome Possible modern co-relation+ − Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus (garbhashaya) female not capable of reproduction, infertile female+ − + − Some of the DNA bases (beejabhaga avayava) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) can conceive, but deliver only dead fetus + − + − Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) as well as those responsible for developing feminine characters incomplete female/ transgender (varta) Gonadal dysgenesis+ − + − + − + − + − + − Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) offspring dies after delivery + − + − Some of the DNA bases (beejabhaga avayava) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) as well as those responsible for developing masculine characters. incomplete male /transgender (trinaputrika) Gonadal dysgenesis+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + − Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene. The following table shows some examples. + − Pattern of inheritance Description Example − X-linked dominant • By mutations in genes on the X chromosome. − • In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. − • In males, a mutation in the only copy of the gene in each cell causes the disorder. − − X-linked recessive • Caused by mutations in genes on the X chromosome.+ − • A mutation would have to occur in both copies of the gene to cause the disorder in females.+ − + − • males are affected by X-linked recessive disorders much more frequently than females. hemophilia, Fabry disease − Y-linked • Caused by mutations in genes on the Y chromosome.+ − + + − Autosomal dominant • One mutated copy of the gene in each cell is sufficient for a person to be affected.+ − • An affected person can inherit the condition from an affected parent. + − + − Autosomal recessive • Both copies of the gene in each cell should have mutations.+ − • Typically not seen in every generation of an affected family. cystic fibrosis, sickle cell disease − Codominant • Two different versions (alleles) of a gene are expressed.+ − • Both alleles influence the genetic trait or determine the characteristics of the genetic condition. ABO blood group, alpha-1 antitrypsin deficiency+ − Mitochondrial • Also known as maternal inheritance, + − • Applies to the genes in mitochondrial DNA − • Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo. Leber hereditary optic neuropathy (LHON) − Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also. For example, heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.
→Classification of congenital disorders:
<div style="text-align:justify;">
<div style="text-align:justify;">
The congenital disorders are classified in two major categories. [ Su. Sa. Sutra Sthana 24/5]
The congenital disorders are classified in two major categories. [ Su. Sa. Sutra Sthana 24/5]
1) Due to genetic defects (aadibalapravrutta):
'''1) Due to genetic defects (aadibalapravrutta):'''
These include maternal (matruja) or paternal (pitruja) genetic factors. These can be termed as ‘pre-conception causes’.
These include maternal (matruja) or paternal (pitruja) genetic factors. These can be termed as ‘pre-conception causes’.
Examples:
Examples:
* Skin lesions (kushtha): Skin lesions resembling the petal of lotus(pundarika), fruit of Abrus pricatorius (kakanaka)[Su. Sa. Nidana Sthana 5/19] and congenital skin patches of different size, shape and colour.[Su. Sa. Nidana Sthana 13/41-44]
* Hemorrhoids (arsha)[ Su. Sa. Sutra Sthana 24/5]
* Obstinate urinary disorders (prameha)[ Su. Sa. Sutra Sthana 24/5]
2) Disorders due to faulty diet and lifestyle habits of mother, especially during the prenatal period (janmabalapravrutta):
* Emaciation (karshya/kshaya) [Dalhana, Su. Sa. Sutra Sthana 24/5]
* Shandi yoni vyapad (female without sexual desire and undeveloped breasts) is caused due to abnormalities in male and female gametes (beeja dosha) and affliction of the uterus by vitiated vata dsoha. [Cha. Sa. [[Chikitsa Sthana]] 30/34-35] This condition is similar to the chromosomal disorder known as “Turner’s syndrome”.
* The defects in the sperm (shukra) cause deformities in factors related to paternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30-31]
'''2) Disorders due to faulty diet and lifestyle habits of mother, especially during the prenatal period (janmabalapravrutta):'''
These may be either due to nutritional factors (rasakruta) or psychological factors (duahruda apacharakruta). These can be termed as ‘post-conception causes’.
These may be either due to nutritional factors (rasakruta) or psychological factors (duahruda apacharakruta). These can be termed as ‘post-conception causes’.
Examples:
Examples:
* Limb deformities (pangu)
* Congenital blindness (jatyandhya)
* Deafness (badhira)
* Dumbness (mooka)
* Nasal voice (minmina)
* Dwarfism (vaamana)
The following table shows comprehensive information about genetic disorders and their consequences on progeny.
The following table shows comprehensive information about genetic disorders and their consequences on progeny.
{| class="wikitable"
|-
(vandhya) Agenesis of uterus/adnexa leading to infertility
!Gender!!Vitiated factor !! Outcome !! Possible modern co-relation
|-
(putipraja) Recurrent pregnancy loss due to genetic disorders.
|Female ||Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus(garbhashaya)||female not capable of reproduction, infertile female(vandhya) || Agenesis of uterus/adnexa leading to infertility
|-
Eg:-
| Female || Some of the DNA bases (beejabhaga avayava) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) || can conceive, but deliver only dead fetus (putipraja)|| Recurrent pregnancy loss due to genetic disorders.
Turner Syndrome,
|-
Swyer Syndrome
| Female ||Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) as well as those responsible for developing feminine characters ||incomplete female/ transgender (varta)|| Gonadal dysgenesis Eg:-Turner Syndrome,Swyer Syndrome
Male Genes in paternal chromosomes(beejabhaga of shukra), responsible for the formation of sperms(shukra) sterile male
|-
(vandhya) Male Infertility due gonadal agenesis
|Male || Genes in paternal chromosomes(beejabhaga of shukra), responsible for the formation of sperms(shukra) || sterile male (vandhya) ||Male Infertility due gonadal agenesis
|-
(putipraja) Recurrent pregnancy loss due to genetic disorders
| Male || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) || offspring dies after delivery (putipraja) || Recurrent pregnancy loss due to genetic disorders
|-
|Male || Some of the DNA bases (beejabhaga avayava) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) as well as those responsible for developing masculine characters. ||incomplete male /transgender (trinaputrika)|| Gonadal dysgenesis
|}
Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene.
The following table shows some examples.
{| class="wikitable"
|-
!Pattern of inheritance !! Description !! Example
|-
|X-linked dominant || •By mutations in genes on the X chromosome,
• In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
• In males, a mutation in the only copy of the gene in each cell causes the disorder.
• In most cases, males experience more severe symptoms of the disorder than females. || fragile X syndrome
|-
|X-linked recessive || • Caused by mutations in genes on the X chromosome.
• A mutation would have to occur in both copies of the gene to cause the disorder in females.
• In males, one altered copy of the gene in each cell is sufficient to cause the condition.
• Males are affected by X-linked recessive disorders much more frequently than females. ||hemophilia, Fabry disease
|-
| Y-linked || • Caused by mutations in genes on the Y chromosome.
• So, the mutation can only be passed from father to son. || Y chromosome infertility, some cases of Swyer syndrome
|-
|Autosomal dominant || • One mutated copy of the gene in each cell is sufficient for a person to be affected.
• An affected person can inherit the condition from an affected parent.
• In most cases, males experience more severe symptoms of the disorder than females. fragile X syndrome
• the condition may result from a new mutation in the gene (e, without any family history) || Huntington disease, Marfan syndrome
|-
• In males, one altered copy of the gene in each cell is sufficient to cause the condition.
|Autosomal recessive || • Both copies of the gene in each cell should have mutations.
• Typically not seen in every generation of an affected family. || cystic fibrosis, sickle cell disease
• So, the mutation can only be passed from father to son. Y chromosome infertility, some cases of Swyer syndrome
|-
|Codominant || • Two different versions (alleles) of a gene are expressed.
• Both alleles influence the genetic trait or determine the characteristics of the genetic condition.|| ABO blood group, alpha-1 antitrypsin deficiency
|-
• the condition may result from a new mutation in the gene (e, without any family history) Huntington disease, Marfan syndrome
| Mitochondrial || • Also known as maternal inheritance
• Applies to the genes in mitochondrial DNA
• Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo. Leber hereditary optic neuropathy (LHON)
|}
Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also. For example, heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.
==Diagnosis of Congenital disorders==
==Diagnosis of Congenital disorders==
History of parents:
History of parents: