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Doctor insights on: Congenital Malformation

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Dr. Richard Roberts
63 doctors shared insights

Congenital Malformation (Overview)

Congenital malformation is aphysical defect present in a baby at birth that can involve many different parts of the body, including the brain, heart, lungs, liver, bones, and intestinal tract. Congenital malformation can be genetic, it can result from exposure of the fetus to a malforming agent (such as alcohol), or it can be of unknown origin.


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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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Dr. Richard Roberts
63 doctors shared insights

Congenital Malformation (Overview)

Congenital malformation is aphysical defect present in a baby at birth that can involve many different parts of the body, including the brain, heart, lungs, liver, bones, and intestinal tract. Congenital malformation can be genetic, it can result from exposure of the fetus to a malforming agent (such as alcohol), or it can be of unknown origin.


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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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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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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 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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Is renal arteriovenous malformation curable?

Is renal arteriovenous malformation curable?

No: No real treatment unles very symptomatic or riskk oof losing a kidney although the likelyhood of this necessity is small as long as the kidney functions normally. However as you have two kidneys you may not know when and if this kidney faiils without continual followup with your physician and routin urin evaluations. ...Read more

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What's the arnold chiari malformation?

What's the arnold chiari malformation?

Chiary II.: Chiari ii malformation (cm-ii), also known as arnold-chiari malformation, is a fetal condition characterized by downward displacement of the cerebellar vermis and tonsils, a brainstem malformation with beaked midbrain on neuroimaging, and a spinal myelomeningocele (open spina bifida). ...Read more

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What is a congenital deformity or malformation?

What is a congenital deformity or malformation?

Abnormal birth: Any abnormality in the baby is considered a malformation. It can be as simple as an extra digit or as severe as multiple malformation syndromes that can be lethal to the newborn. ...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 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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Can chiari malformation cause menieres diseaease?

No relationship.: No, arnold chiari malformation cannot cause meniere's disease. Meniere's disease is an inner ear disorder, whereas a chiari malformation is a brain condition. A chiari malformation occurs when the bottom of the brain (the brainstem) extends below the opening of the skull. ...Read more

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Arnold chiari malformation, what constitutes a botched surgery?

Arnold chiari malformation, what constitutes a botched surgery?

Chiari surgery: Surgery for a chari malformation is rather straight forward - a "botched" surgery is rare, in some rare cases further surgery might be indicated if the symptoms are not resolved - this assumes there were no complications during the procedure. ...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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What is chiari malformation?

What is chiari malformation?

Can be symptomatic: Chiari malformation type i is neurological disorder where cerebellum (or more specifically the cerebellar tonsils), descends out of the skull into the spinal area, resulting in compression of parts of brain and spinal cord, and disrupts normal flow of cerebrospinal fluid.Type ii involves extension of both cerebellar and brain stem tissue into the foramen magnum. Associated with myelomeningocele. ...Read more

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What is chiari malformation?

What is chiari malformation?

Low cerebellum.: The tip or bottom of the cerebellum, the posterior brain controlling coordination, may extend be too low, and lie behind the spper spinal cord where it can get pinched. Chiari is graded according to severity. Wickipedia has a good article on chiari malformation listing the grading. ...Read more

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Anyone operated on arnold chiari malformation?

Anyone operated on arnold chiari malformation?

Many times: Chiari type two is arnold chiari. It is associated with spina bifida, hydrocephalus, syrinx, and apnea. Aggressive surgical management is often necessary at birth and during early infancy. The anomaly can not be cured. Release of pressure is the only treatment. ...Read more

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What are pulmonary arteriovenous malformations (avm's)?

What are pulmonary arteriovenous malformations (avm's)?

Nidus of vessels: Abnormal communication between a pulmonary artery and vein with no normal capillary bed in between them. ...Read more

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Dr. Nikolaos Zacharias
841 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more