User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Attenuated Adenomatous Polyposis Coli (AAPC)
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Attenuated adenomatous polyposis coli” is the milder form of familial adenomatous polyposis (FAP). It happens when a person is born with a harmful change (a ...

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Attenuated Familial Adenomatous Polyposis (AFAP)
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Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that causes a person to grow fewer colon and rectal polyps than the classic form of ...

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Atypical Chediak–Higashi Syndrome
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Atypical Chediak–Higashi syndrome is the milder, later-onset end of a single disease caused by changes (pathogenic variants) in the LYST gene. In atypical CHS, ...

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Attenuated Chédiak-Higashi Syndrome (CHS)
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Attenuated Chédiak-Higashi syndrome (CHS) is a rare, inherited immune system and pigment disorder caused by harmful changes (mutations) in a gene called LYST. ...

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Folliculitis Ulerythematosa Reticulata (FUR)
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Folliculitis ulerythematosa reticulata (FUR) is a rare skin condition in the same family as keratosis pilaris atrophicans (KPA). It mainly affects the cheeks. ...

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Atrophoderma Vermiculata
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Atrophoderma vermiculata is a rare skin condition that usually begins in childhood. It first shows up as tiny rough bumps centered on hair follicles, most ...

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Atrophoderma of Pasini and Pierini (APP)
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Atrophoderma of Pasini and Pierini (APP) is a rare skin condition where the middle layer of the skin (the dermis) becomes thinner in certain areas, creating ...

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Atrophic Lichen Planus (ALP)
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Atrophic lichen planus (ALP) is a rare form (variant) of lichen planus—a chronic, immune-mediated disease that can affect skin, mouth, scalp, nails, and ...

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Houlston-Ironton-Temple (HIT) Syndrome
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Houlston-Ironton-Temple (HIT) syndrome is an extremely rare pattern of birth differences. Babies are born with a serious heart wall problem called an ...

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Atrioventricular Defect Blepharophimosis Radial and Anal Defect Syndrome (AVB-RAD)
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Atrioventricular defect–blepharophimosis–radial and anal defect syndrome (AVB-RAD) is an extremely rare, inherited condition in which a child is born with a ...

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Atrial Cardiomyopathy with Heart Block
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Atrial cardiomyopathy means the atria (the two upper heart chambers) are diseased. The atrial walls may be thick, stiff, stretched, scarred (fibrosis), ...

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Atrichia with Papular Lesions (APL)
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Atrichia with papular lesions (APL) is a very rare, inherited hair disorder. Babies are born with normal hair or some soft hair. During the first months of ...

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Atrial Standstill
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A sinus venosus atrial septal defect (often shortened to sinus venosus ASD) is a birth defect in the wall that separates the heart’s two upper chambers (the ...

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Sinus Venosus Atrial Septal Defect (SVASD)
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A sinus venosus atrial septal defect (SVASD) is a hole that is not in the true thin wall between the upper heart chambers (the inter-atrial “septal membrane”). ...

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Atrial Septal Defect – Ostium Secundum type (Secundum ASD / Fossa Ovalis ASD)
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An ostium secundum atrial septal defect is a birth-present hole in the thin wall (septum) between the two upper heart chambers (the atria). In the womb, every ...

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Primum Atrial Septal Defect (Ostium Primum ASD)
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A primum atrial septal defect is a birth defect in the wall between the two top chambers of the heart (the atria). The hole sits very low in that wall, close ...

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Partial Atrioventricular Canal Defect with an Isolated Atrial Component
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A partial atrioventricular canal defect (often shortened to partial AVSD) is a birth defect of the heart where there is a hole low in the wall between the two ...

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Incomplete Atrioventricular Canal Defect with an Isolated Atrial Component
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An “incomplete atrioventricular canal defect with an isolated atrial component means there is a hole low in the wall between the top heart chambers (the ...

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Atrioventricular Defect with Atrial Shunting
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An atrioventricular septal defect (AVSD) is a birth heart condition where the wall between the top chambers (atria) and the bottom chambers (ventricles) does ...

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Atrial Septal Defect Ostium Primum Type
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An atrial septal defect (ASD) is a hole in the wall (septum) between the two top chambers of the heart (the atria). The ostium primum type is a special kind of ...

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