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Doctor insights on: Congenital Aplasia

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Are congenital heart defects hereditary?

Are congenital heart defects hereditary?

Depends on variables: There are a few syndromes with high frequency of specific heart defects that can have inheritance risk up to 50%. Most, however, are part of a complex inheritance pattern with around 5% risk.This 5% would include any pattern of congenital heart defect, not necessarily the same one. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Is congenital heart disease genetic?

Is congenital heart disease genetic?

Some of it: Even though 8 out of every 1000 babies born will have have some form of heart defect, when there is a first line family member affected the number goes up to about 16-30/1000 (for some particular defects this number will be higher) so this would suggest a genetic component...We just haven't learned enough about genetics and the heart to be more precise, but this is changing every day. ...Read more

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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

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Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

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Is moyamoya a congenital disease?

Is moyamoya a congenital disease?

YES: Moyamoya disease is generally a congenital disease affecting the arteries of the brain causing them to gradually occlude. Fortunately, collaterals develop to supply blood to critical areas of the brain. These vessels can be frail and are prone to bleeding - which can cause a stroke. ...Read more

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Are congenital heart defects considered types of mitochondrial diseases?

Are congenital heart defects considered types of mitochondrial diseases?

Nope.: Most congenital heart defects can be prevented with Folic Acid preconceptionally and have nothing to do with mitochondrial disorders. ...Read more

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Are congenital heart defects usually deadly?

Are congenital heart defects usually deadly?

No: In fact, most babies with congenital heart disease are expected to reach adulthood. Some of the more severe lesions have up to a 30% mortality in the first year, however these are less common than the more treatable defects. ...Read more

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Can late onset congenital hyperplasia cause addison's disease?

Can late onset congenital hyperplasia cause addison's disease?

Not really: Addison's disease is adrenal cortical failure due to injury, ablation or autoimmune disorders of adrenal gland or pituitary gland under-production of acth occurring in all genders & ages. Cah occurs mostly in ashkenazi jews, occurs in women in early to mid-adulthood & results in overproduction of androgens (male hormones). These are different disorders. See: http://www.Nadf.Us/diseases/cah.Htm. ...Read more

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Can congenital dislocated hip affect childhood development?

Can congenital dislocated hip affect childhood development?

Usually not: Developmental hip dysplasia, formerly called congenital hip dislocation, should not affect future development unless associated with another anomaly in major organ. ...Read more

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What is "myotonia congenita"?

What is "myotonia congenita"?

Myotonia congenita: Genetic disease affecting skeletal muscles, leading to delayed relaxation of those muscles (Myotonia) with rigidity, stiffness, cramping. ...Read more

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How commonly is congenital heart disease genetic?

How commonly is congenital heart disease genetic?

Polygenic problem: The information that codes for proper heart formation is shared by many genes on chromosomes. Genetic studies show linkage, where a person with a form of chd has a 4% chance of having a first degree relative with any form of chd as well as a 4% risk of having a child with a chd. A few rare syndromes have higher genetic risk (dominant = 50%) that sometimes have chd as part of the syndrome. ...Read more

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What birth defects accompany wilms' tumor?

What birth defects accompany wilms' tumor?

Many can: Wilms' tumor (a childhood kidney cancer) can be a part of other congenital syndromes such as wagr syndrome, denys-drash syndrome, and beckwith-wiedemann syndrome. Other accompanying birth defects can include lacking the colored part of the eye, ambiguous genitalia, intellectual disability, large birth size, large tongue, intestinal malformation, and large eyes. Wilms' tumor can also occur alone. ...Read more

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Is sickle recessive anemia a sex-linked disease?

Is sickle recessive anemia a sex-linked disease?

If you mean....: Is the beta globin gene transmitted on a sex chromosome (either x or y), the answer is no. The beta globin locus is autosomal, and classical sickle cell disease (hgbss disease) displays autosomal recessive inheritance. Boys and girls are equally likely to inherit the beta-s allele from an affected or carrier parent, and if they inherit a beta-s allele from each parent, they will have disease. ...Read more

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What is paramyotonia congenita?

What is paramyotonia congenita?

Hereditary condition: Autosomal dominant, similar to hyperkalemic periodic paralysis, where repeated exercise worsens muscle stiffness, and lead to attacks of weakness, and eventual permanent proximal muscle weakness. Typically presents with attacks of weakness and stiffness, and the phenomenon of myotonia is present. ...Read more

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Who has congenital adrenal hyperplasia?

Who has congenital adrenal hyperplasia?

Enzyme deficiency: Deficiency of 21 hydroxylase enzyme needed for synthesis of gluco- and mineralo-corticoids causes excessive production of sex hormones, mainly male sex hormones. The result is endocrine disturbance in both boys and girls and virilization in girls. ...Read more

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Is chiara malformation hereditary?

Is chiara malformation hereditary?

Chiari malformation: Over the years there has been a good deal of discussion about heredity. There have been reported families with more than one family member having a chiari - in my own practice the pressence of multiple family members with chiari has been quite rare. ...Read more

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Is osteogenesis imperfecta a curable disease?

Is osteogenesis imperfecta a curable disease?

No: It is an inherited connective tissue disease that produces "brittle bones" that results in non-traumatic fractures. It ranges from mild to lethal. There is no cure. Genetic counseling is indicated for the families. ...Read more

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Is sickle cell anemia hereditary?

Is sickle cell anemia hereditary?

Yes.: it is an autosomal recessive disorder, meaning that both parents must be carriers of the mutation. If they are, the chance of each child being affected is 1 in 4. ...Read more

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