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Doctor insights on: Aperts Syndrome

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How can I help my child with apert syndrome?

How can I help my child with apert syndrome?

See details: Children with Apert syndrome have multi organs problems: craniofacial, hands (fingers web) V shape palate , underbite , hearing and vision impair. Need lots of correctional surgeries but mostly can Intergrated in mainstream society later in life. ...Read more

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Tell me about apert syndrome disease, please?

Tell me about apert syndrome disease, please?

Bone dysplasia : You will find this article helpful. http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/apert-syndrome/ Please ask further questions or would like to discuss about this condition ...Read more

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What's it like to have a child with apert syndrome?

What's it like to have a child with apert syndrome?

Difficult rewarding: Genetic condition is caused by gene mutation with problems of facial/cranial bone development. The medical problems come from these deformities. A loving, supportive & involved family is correlated with normal outcomes in alpert's people. There r many obstacles- surgeries, sleep apnea, frequent ear/sinus infections. http://children.webmd.com/apert-syndrome-symptoms-treatments-prognosis?page=2. ...Read more

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What is some information about apert syndrome disease?

What is  some information about apert syndrome disease?

Genetic disease: Apert's syndrome is a rare genetic disorder caused by a gene mutation. Skull & facial bones r effected & often require extensive cranial facial surgery. Hearing loss, odd fingers/toes, skin problems occur often. Apnea & sinus/ear infections r chronic problems. See nih site for more information. http://ghr.nlm.nih.gov/condition/apert-syndrome. ...Read more

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If my brother has apert syndrome, what are the chances that my kids will?

If my brother has apert syndrome, what are the chances that my kids will?

1/65,000: Apert syndrome is a rare but easily recognized syndrome. Studies show it to be an autosomal dominant disorder, meaning all the cases are new mutations unless passed on by one parent. Unless one of your parents had the disorder, your brother has the new mutation and your kids are not at risk any more than the 1/65, 000 risk of the general population. ...Read more

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What is it like to have a child with apert syndrome? How can I help support them?

What is it like to have a child with apert syndrome? How can I help support them?

Child with deformity: A child with Apert syndrome has deformed head shape, protruding eyes, high oral arch, dental crowding, triangular upper lip, various types of fusion of fingers, and quite often mental retardation. he head deformity usually requires surgeries to open up more space within the skull, so that the brain can grow. Fused fingers need surgeries too for the child to use the hand adequately. ...Read more

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Can an ultrasound detect aperts syndrome?

Can an ultrasound detect aperts syndrome?

Yes: It may be difficult to detect until the third trimester, however. ...Read more

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What is the life expectancy for patients with apert syndrome?

What is the life expectancy for patients with apert syndrome?

Normal: before neurosurgeons learned how to open skulls tutors patients who went untreated would have severe effects from constructing the brain since the skull could not grow. When treated early, The brain is allowed to grow normally. ...Read more

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Is apert syndrome contagious in children via saliva or touch?

Is apert syndrome contagious in children via saliva or touch?

No: Apert syndrome is not a contagious illness.It is a recognized pattern of human malformation involving events during fetal development.Cases are thought to arise from a new mutation in genes, with a frequency of 1/70, 000 births. ...Read more

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Can apert syndrome be contagious in children through saliva or touch?

Can apert syndrome be contagious in children through saliva or touch?

No: Apert syndrome is usually a spontaneous new gene mutation but could be passed from parent to child. A mutation in the 10th chromosome 10q25-26 causes changes in various growth factors that lead to variable physical defects. It is never passed any other way. ...Read more

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Can you tell me about a genetic disease called apert syndrome?

Can you tell me about a genetic disease called apert syndrome?

Genetic condition: Caused by gene changes in FGFR2 mutations which produce fibroblast growth factor receptors which control growth. Characterized by early fusion of the sutures in the skull (soft spot) and webbed hands or toes. Good reference: http://ghr.nlm.nih.gov/condition/apert-syndrome ...Read more

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What's pisa syndrome?

Pisa syndrome: A persistent administration of antipsychotic can produce persistent dystonia , which is called pisa syndrome. ...Read more

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What is mrkh syndrome?

What is mrkh syndrome?

MRKH Syndrome: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome - the vagina & uterus are underdeveloped or absent. ...Read more

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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What's ribtip syndrome?

What's ribtip syndrome?

Rib-tip Syndrome: Rib-tip syndrome is also called “costo-iliac impingement syndrome”. It occurs when the top of the hip bone touches or rubs on the lowest rib & leads to pain. ...Read more

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What is berhs syndrome?

What is berhs syndrome?

Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more

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What is sharpe syndrome?

What is sharpe syndrome?

Sharpe Syndrome : Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more

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What is cowden syndrome?

What is cowden syndrome?

Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more

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What is reye's syndrome?

What is  reye's syndrome?

Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure,coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any salicylate product was recognized.After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read more

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