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Doctor insights on: Congenital Hypotrichosis

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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

Dr. BHARAT Shah
213 doctors shared insights

Thin Hair (Definition)

Hair are strands that grow from the epidermis and are composed of Keratin. Hair is thin when the ...Read more


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What causes congenital hypothyroidism?

What causes congenital hypothyroidism?

Underdevelopment...: Congenital thyroid dysplasia, poor development of thyroid gland in utero, leads to congenital hypothyroidism. ...Read more

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What is congenital adrenal hyperplasia?

What is congenital adrenal hyperplasia?

Enzyme defeciency: This disease results from deficiency of an enzyme, 21 hydroxylase, that is essential for synthesis of adrenal hormones. Block in the synthesis of glucoroticoids causes excess production of male sex hormones. See this site for more information. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001448/. ...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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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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Is hypertrophic cardiomyopathy hereditary? Sex-linked or recessive?

Is hypertrophic cardiomyopathy hereditary? Sex-linked or recessive?

Yes: Hypertrophic cardiomyopathy is almost always hereditary, being an autosomal dominant condition. It commonly runs in families, thus the importance of evaluating everyone in the immediate family (siblings or children) with echocardiography since hypertrophic cardiomyopathy is a potentially fatal condition, particularly in young people and young athletes. Detection is the key to saving a life. ...Read more

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What does congenital adrenal hyperplasia cah look like?

What does  congenital adrenal hyperplasia cah look like?

Virilization: In the classic form newborn girls will often have ambiguous looking genitalia because of intrauterine exposure to their own overproduction of androgens. Can't really see it in a newborn boy. In non-classical early pubic hair in both sexes can be presenting feature. As kids grow older other things may warrant checking like recalcitrant acne (both sexes) or irregular periods/hirsutism in girls. ...Read more

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What is congenital hypothyroidism?

What is congenital hypothyroidism?

Neonatal hypothyroid: Rare thyroidopathies resulting from mutations that prevent the fetal or neonatal thyroid gland from producing enough hormone are collectively called congenital hypothyroidism. Even more rare are cases of lingual or other thyroid ectopy or agenesis that can have the same effect (low thyroxine). As this hormone is required for brain development affected infants can become intellectually challenged. ...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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What is congenital hypertrophy of retinal pigmentation epithelium?

What is congenital hypertrophy of retinal pigmentation epithelium?

It is: A very darkly pigmented lesion of the retina found during an eye exam. It is similar to a mole or nevus, but has some distinctive differences. Unlike a mole, it cannot become cancerous. It does not affect the vision and should be of no concern to you. ...Read more

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Whats congenital generalized lipodystrophy?

Whats congenital generalized lipodystrophy?

Fat distribution: This is very rare and both parents are typically carriers. The tissue under the skin has almost no fat under it. Instead, fat accumulates inside muscles, liver, heart. Triglycerides get very high and patients are resistant to insulin. Kids may develop early pubic hair and get diabetes. There are many more details. This condition is very serious. ...Read more

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Can congenital adrenal hyperplasia affect a persons period?

Can congenital adrenal hyperplasia affect a persons period?

Cong adrenal hyper: Yes. see your physician. Wikipedia and uptodate.com are good reads for this.
There are several kinds of this as well. ...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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Could my son be born with cah congenital adrenal hyperplasia?

Could my son be born with cah congenital adrenal hyperplasia?

Oh, now i know CAH: Previous answer, i thought it meant chronic active hepatitis. Yes, a girl or boy can be born with cong adrenal hyperplasia; this refers to a group of inherited disorders of the adrenal gland, where there is a lack of a hormone needed to make certain steroid hormones. Male sex characteristics may appear earlier than normal. Time for a pediatric endocrinologist, if there is any question of this. ...Read more

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Can late onset congenital adrenal hyperplasia present itself with hyper pigmentation?

Can late onset congenital adrenal hyperplasia present itself with hyper pigmentation?

Addison's disease: Your history says you have addison's disease (adrenal insufficiency), which is not the same as congenital adrenal hyperplasia. Addison's disease can definitely present with darkening of the skin. Other symptoms can be found here: http://www.Mayoclinic.Com/health/addisons-disease/ds00361/dsection=symptoms. ...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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Is congenital hypothyroidism a sort of cretinism?

Is congenital hypothyroidism a sort of cretinism?

Yes: Cretinism or cretin was the term years ago to describe infants with the constellation of symptoms expressed in untreated congenital hypothyroidism.The term is a bit archaic, and has a derogatory connotation attached to its use.I seldom see the term used any more & haven't seen it in research literature in decades. ...Read more

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Dr. Brad Goldenberg
95 doctors shared insights

Hypotrichosis (Definition)

Hypotrichosis = condition ...Read more