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Doctor insights on: Congenital Generalized Hypertrichosis

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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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Is Generalized epilepsy hereditary?

Is Generalized epilepsy hereditary?

Some: there are many varieties of generalized seizrues. Some like Petit mal and febrile seizures have a high rate of familial occurrence. Others do not. The EEG pattern helps define the type of seizure which can clarify the issue. ...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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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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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 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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Anyone heard of incontinentia pigmenti a rare genetic condition?

Anyone heard of incontinentia pigmenti a rare genetic condition?

Rare X linked pbm: Ip is a rare multisystem affliction that is seen in girl infants & fatal to males in the womb. Incidence estimates run 1/40000-1-50000 births. It appears sometimes as a blistering rash, warty or just increased pigmentation in a swirling or streaking pattern. For a more see: www.Ncbi.Nlm.Nih.Gov/pmc/articles/ pmc2729954/?Tool=pmcentrez. ...Read more

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Is generalized epilepsy a progressive, degenerative disorder?

Is generalized epilepsy a progressive, degenerative disorder?

Not progressive: Epilepsy is the term we use for recurrent seizures which are not caused by tumor or degenerative brain diseases. Although epilepsy may begin at any age, it usually does not worsen or cause increasing problems over time. However, a prolonged seizure can do permanent harm, so it is important to work closely with a neurologist to keep seizures well-controlled on meds which aren't causing side effects. ...Read more

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Which disease causes infantile paralysis?

Which disease causes infantile paralysis?

Polio: Infantile paralysis is an old term for poliomyelitis, an acute and often devastating viral disease. ...Read more

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Is most generalized granuloma annulare idiopathic or related to disease?

Is most generalized granuloma annulare idiopathic or related to disease?

Granuloma Annulare: Causes, incidence, and risk factors granuloma annulare most often affects children and young adults. It is slightly more common in girls. The condition is usually seen in otherwise healthy people. Occasionally, it may be associated with diabetes or thyroid disease. Its cause is unknown. ...Read more

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What childhood disease causes infantile paralysis?

What childhood disease causes infantile paralysis?

Polio: One of the older names for the neurologic consequences of polio is Infantile Paralysis. It caused the paralysis in some but not all of those who had the illness.There have been some cases of a non-polio paralysis that were reported in the past year in parts of the country. ...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 cerbral palsy an inherited disorder?

No: Cerebral palsy is a termedreserved for perinatal events (i.e. Just before , during and just after the birth) that cause damage to the central nervous system. ...Read more

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Diffuse idiopathic skeletal hyperostosis treatment?

Diffuse idiopathic skeletal hyperostosis treatment?

DISH: Dish is calcification or bony hardening of ligaments in areas where they attach to your spine. Go to your doctor for an individualized treatment plan. There is no cure for dish but there are steps to reduce the pain and stiffness and preventing complications. Your doctor may prescribe nsaids, tylenol, (acetaminophen) corticosteroid injections, physical therapy. Occasionally people undergo surgery. ...Read more

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Is focal chronic autoimmune thyroiditis an age-related disease?

Is focal chronic autoimmune thyroiditis an age-related disease?

No: Autoimmune thyroiditis can occur in young children, adolescents and adults of any age. We see it most often in children who have a family history of that condition. In many children that we have seen, it was mild but symptomatic enough that their mother recognized the condition and sought treatment. Even with mild disease in children the treatment can have profound benefits. ...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 Maccune Albright syndrome cause hyperthyroidism?

Can Maccune Albright syndrome cause hyperthyroidism?

McCune Albright: McCune -Albright syndrome is associated with excess hormone production, including hyperthyroidism. People with this condition should be screened regularly. ...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