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Doctor insights on: Congenital Microcephaly

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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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Dr. Anthony Barkovich
123 doctors shared insights

Microcephaly (Definition)

Is a neurodevelopmental disorder with a head circumference more than 2-3 standard deviations below the mean for age & gender. It may be congenital or develops in the first few years of life. It stems from wide variety of conditions that cause abnormal brain growth, or from syndromes associated with chromosomal abnormalities. Life expectancy is reduced, depending on ...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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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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Do breech babies carry congenital defects?

Do breech babies carry congenital defects?

Rarely: Rarely does this happen where babies have congenital defects that are severe enough that they either neurological impair the baby and prevent movement or simply get in the way of a baby being able to flip on its own. This is a rare cause of breech though. ...Read more

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What is congenital hydrocephalus?

What is congenital hydrocephalus?

Hydrocephalus: Congenital hydrocephalus is a situation where an infant is born with increased spinal fluid within the brain which is called hydrocephalus. Congenital means it was present at birth. ...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 microcephaly a genetic disease?

Is microcephaly a genetic disease?

It can be: Primary microcephaly is an autosomal recessive genetic disorder. Microcephaly is also a feature of other genetic disorders with multiple features. Microcephaly however is not always a genetic condition. A clinical geneticist or neurologist will be able to perform evaluations to determine the cause of the microcephaly. ...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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How common are babies born with congenital abnormalities?

How common are babies born with congenital abnormalities?

2--3%, up to 7%: The usual quoted rate is as low as 2-3%. However in one prospective study of the outcome of 5, 964 pregnancies the incidence rose to 7%! the cause of 40-60% of congenital anomalies in humans is unknown. These are referred to as sporadic, a term that implies an unknown cause, random occurrence regardless of maternal living conditions. ...Read more

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Is spina bifida hereditary?

Is spina bifida hereditary?

Studies show that : the incidence of neural tube defects (NTD's) like open Spina Bifida would decrease by 70% if all women took 0.4mg of Folic Acid daily from menarche to menopause. However, this dose does not prevent NTD's in offspring of women with variations in several genes involved in folate (folic acid) & homocysteine metabolism. There are also inheritable genetic causes of NTD's that are not related to folate (folic acid) metabolism. ...Read more

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Is a PDA (patent ductus arteriosus) considered a chd (congenital heart defect)..?

Is a PDA (patent ductus arteriosus) considered a chd (congenital heart defect)..?

Yes: Yes - if it persists then it would qualify as chd and if it is audible in a child past infancy then it would ordinarily be closed in the cathetization laboratory. ...Read more

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What is fontan operation in congenital heart defects?

What is fontan operation in congenital heart defects?

Fontan Procedure: The fontan is a surgery that connects the inferior venacava (ivc) to the pulmonary arteries. The fontan is the final surgery for patients who have a single ventricle or single ventricle physiology. This means that the blue blood, desaturated blood retruning to the heart is directed to the lungs without being pumped through the heart. ...Read more

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What causes arnold chiari malformation?

What causes arnold chiari malformation?

No one knows: Chiari described malformations of the cerebellum. Arnold added the defects in the brain associated with spina bifida. This became known as chiari type 2 or arnold chiari. There is kinking of the medulla and fourth ventricle, obstruction of the outlet of the fourth ventricle, peaking of brainstem, fusion of thalamus, as well as hydrocephalus and incomplete closure of spinal cord. ...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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Is tetralogy of fallot hereditary?

Is tetralogy of fallot hereditary?

Depends on variables: Most cases of complex congenital heart disease happen in a sporadic manner. The general risk of a parent with a chd having a child in these sporadic forms is about 6%.This is not specific to the same defect but includes all defects.When it is part of an autosomal disorder or chromosome deletion syndrome, the risks are higher. ...Read more

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Is arnold chiari malformation type one a neural tube defect?

No: The more accepted term is chiari malformation as arnold-chiari is an older term. This type of malformation is not a neural tube defect, but rather an abnormal migration of the cerebellar tonsils below the level of the foramen magnum (chiari type 1). This defect is attributed to a congenitally small posterior fossa, thus allowing the cerebellar tonsils to migrate downward. ...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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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

Small Head (Definition)

Head circumference of less than 5th percentile for postnatal ...Read more