User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Unroofed Coronary Sinus (URCS)
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Unroofed coronary sinus (URCS) is a rare heart birth defect where part or all of the thin wall (the “roof”) that normally separates the coronary sinus (the ...

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Atrial Septal Defect Coronary Sinus Type
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Atrial Septal Defect, coronary sinus type (also called unroofed coronary sinus) it’s a rare heart birth defect where the coronary sinus (a small venous channel ...

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Atrial Septal Defect–Atrioventricular Conduction Defects Syndrome
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ASD-AV conduction defects syndrome is a rare, inherited heart condition. A person has a hole between the heart’s upper chambers (an atrial septal defect, most ...

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Atrial Septal Defect (ASD) Associated with NKX2-5 Gene Mutation
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Atrial septal defect (ASD) means there is a hole in the wall (the septum) that separates the two top chambers of the heart (the right and left atria). Because ...

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Atrioventricular (AV) Conduction Defects
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Atrioventricular conduction defects are problems with the heart’s “electrical wiring” between the upper chambers (atria) and lower chambers (ventricles). ...

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Atrial Septal Defect (ASD)
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Atrial Septal Defect (ASD) is a birth defect where there is a hole in the wall (septum) that separates the heart’s two upper chambers (the atria). Because of ...

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Atrial Conduction Disease
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Atrial conduction disease means the electrical signal travels too slowly or gets blocked as it moves across the heart’s top chambers (the right and left ...

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Urethral Atresia
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Urethral atresia means the urethra (the tube that lets urine exit the bladder) did not form a usable opening during fetal development. Urine cannot leave the ...

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Atresia of the Urethra
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Atresia of the urethra means the urethra—the tube that should carry urine from the bladder to the outside—did not form an open channel. It is blocked ...

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Jejunoileal Atresia
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Jejunoileal atresia is a birth defect where a segment of the small intestine (jejunum and/or ileum) fails to form a normal, open tube, causing a complete ...

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Jejunal Atresia
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Jejunal atresia is a birth problem where a section of the middle small intestine (the jejunum) is blocked or missing. Because the tube is closed, milk cannot ...

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Congenital Small Intestine Atresia
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Congenital small intestine atresia means a baby is born with a blocked or missing segment of the small bowel (jejunum or ileum). Food and fluid cannot pass ...

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Apple Peel Syndrome
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Apple-peel syndrome is a rare birth condition where a baby’s small intestine is blocked and twisted in a spiral, much like the peel of an apple. Doctors also ...

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Atresia of the Small Intestine
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Atresia of the small intestine means a portion of a baby’s small bowel did not form a normal, open tube before birth. Instead of a smooth passage, there is a ...

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Congenital Hypotransferrinemia
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Congenital hypotransferrinemia is an ultra-rare inherited condition where the blood has very little or almost no transferrin, the protein that normally carries ...

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Atransferrinemia
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Atransferrinemia (also called congenital hypotransferrinemia) is a very rare inherited blood disorder where the body makes little or no transferrin, the main ...

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Atkin–Flaitz–Patil–Smith Syndrome
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Atkin–Flaitz–Patil–Smith syndrome is an extremely rare, X-linked syndromic intellectual disability described in a single extended family in the medical ...

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Atkin-Flaitz Syndrome
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Atkin-Flaitz syndrome (also reported as Atkin–Flaitz–Patil–Smith syndrome; sometimes listed as Atkin syndrome) is a rare X-linked genetic condition. It mainly ...

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Athyreosis
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Athyreosis means a baby is born without any thyroid gland at all. Because the thyroid gland makes thyroid hormone, babies with athyreosis have primary ...

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Feigenbaum–Bergeron–Richardson Syndrome (FBR Syndrome)
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Feigenbaum–Bergeron–Richardson syndrome is an ultra-rare genetic disorder reported in the medical literature in 1994 in two brothers. It combines premature, ...

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