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Doctor insights on: Symptoms Of Primordial Dwarfism

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Describe all symptoms of Asperger syndrome in adults?

Describe all symptoms of Asperger syndrome in adults?

Similar to children: Social awkwardness, subtle communication differences, narrowed pedantic interests. But aspies are awesome people, just different, not deficient. See< http://www.Ninds.Nih.Gov/disorders/asperger/detail_asperger.Htm#211353080> & . ...Read more

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What are symptoms of congenital adrenal hyperplasia in girls?

What are symptoms of congenital adrenal hyperplasia in girls?

It varies: Persons with the most common form of congenital adrenal hyperplasia (cah) have a predisposition to make extra testosterone. For girls can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at birth. Some girls can also have "salt wasting". Girls can also have somewhat masculinized behaviors. Testosterone levels can be lowered by therapy. www.caresfoundation.org. ...Read more

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What are the symptoms of dwarfism?

What are the symptoms of dwarfism?

Little people: Adult under 4 feet 10 inches and they are classified according to cause and proportionality of body parts. ...Read more

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How many cases of primordial dwarfism are found worldwide?

About 200: Primordial means we do not know the specific cause, about 200 sub-types have been described in medical literature. With the genome project many of this causes will gradually come to light. ...Read more

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Common symptoms of Marfan's syndrome?

Marfan Syndrome: There is significant variability in how marfan syndrome presents in people. Possibly symptoms include: tall height; long arms, legs, fingers & toes, heart murmur, curved spine, flat feet, nearsightedness & deformity of the breast bone. ...Read more

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Is lack of conscience one of the symptoms of Asperger syndrome?

Is lack of conscience one of the symptoms of Asperger syndrome?

It is not: Aspies don't understand other people or why their odd behavior often provokes such bad reactions. By contrast, a sociopath is indifferent to the feelings of others and may get pleasure from making others unhappy. Aspies are educable and often grateful -- a treated aspie looks back with regret ; is often eager to do good for others. You can't reach a sociopath. ...Read more

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Do the symptoms of congenital adrenal hyperplasia differ by gender?

Do the symptoms of congenital adrenal hyperplasia differ by gender?

Yes: Persons with the most common form congenital adrenal hyperplasia (cah) have a predisposition to making extra testosterone. For girls this can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at the time of birth. Girls can also have somewhat masculinized behaviors. The testosterone levels can be lowered by therapy. Boys do not have genital or behavioral issues. ...Read more

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Symptoms of epiphyseal dysplasia?

Symptoms of epiphyseal dysplasia?

Mild pain: Multiple epiphyseal dysplasia is an inherited disorder, that affects the joints of the long bones in the arms and legs. There are 2 types based on inheritance (either recessive or dominant) symptoms are usually mild, and include joint pain, early arthritis, a waddling gait. Some a have other deformities like scoliosis, malformations of the hands and or feet. ...Read more

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Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?

Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?

Yes and yes: This is a very complex topic. There are many different forms of the disease affecting many different genes. I would suggest the following as a nice overview about the disease: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1332/. ...Read more

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What are the early symptoms of adult respiratory distress syndrome?

What are the early symptoms of adult respiratory distress syndrome?

Trouble breathing : The one symptoms that all who get ARDS is dyspnea, which progresses to an inability to breath on their own. Cough may be present, but not always, fever may be present, as well as chest tightness. Pain is usually absent. ...Read more

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What are the symptoms of turner syndrome?

What are the symptoms of turner syndrome?

Turner syndrome: Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporosis, heart murmur secondary to heart disease, arms turning outwards at the elbows, not having periods during pubertal age, learning disability. ...Read more

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What are the symptoms of digeorge syndrome?

What are the symptoms of digeorge syndrome?

22q11.2 deletion: Wide variation including congenital heart disease (conotruncal abnormalities), cleft palate, t cell deficiency (thymic hypoplasia/aplasia), parathyroid deficiency (hypocalcemia), learning difficulties, and schizophrenia. ...Read more

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What are the symptoms of rett syndrome?

Regressed developmen: The hallmark is a developmental regression usually starting in the first 2 years. This is associated with loss of visuion ...Read more

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What are the symptoms of klinefelters syndrome?

What are the symptoms of klinefelters syndrome?

XXY male: The most common symptom is infertility. Because they often don't make as much of the male hormone testosterone as other boys, teenagers with klinefelter's syndrome may have less facial and body hair and may be less muscular than other boys. ...Read more

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Describe the features of bronchopulmonary dysplasia (b.P.D.).?

Describe the features of bronchopulmonary dysplasia (b.P.D.).?

Oxygen dependency: Bpd is a disease of the lungs of premature babies. Specific definitions vary, however is is generally defined as oxygen need at about one month of age. It typically results from long term mechanical ventilation in premies. The lungs continue to grow for he first few years of life and many outgrow the condition. ...Read more

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What are the symptoms of klinefelter's syndrome?

What are the symptoms of klinefelter's syndrome?

Not obvious: Many men who have klinefelter syndrome do not have obvious symptoms. Others have sparse body hair, enlarged breasts, and wide hips. In almost all men the testicles remain small. In some men the penis does not reach adult size. Their voices may not be as deep. They usually cannot father children. But they can have a normal sex life. This is from webmd if you want more info. ...Read more

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What are the symptoms of klinefelter's syndrome?

Klinefelter: Symptoms of klinefelt syndrome in men may include infertility, decreased libido, small genitalia, gynecomastia, weak bones, minimal body & facial hair as well at tall height. ...Read more

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What are the symptoms of post-polio syndrome?

What are the symptoms of post-polio syndrome?

Twitching and weakne: The main symptoms are muscle twitching and new onset of weakness which may be progressive long after a person has had polio. The person should consult a neurologist for management suggestions. ...Read more

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What are the symptoms of edwards syndrome?

What are the symptoms of edwards syndrome?

See below:: Trisomy 18 (edwards syndrome) is associated with abnormalities in many parts of the body. Individuals often have slow growth before birth (intrauterine growth retardation) & a low birth weight. Affected individuals may have heart defects and anomalies of other organs that develop before birth. Other features include a small, abnl shaped head; a small jaw/mouth; clenched fists;overlapping fingers. ...Read more

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What are the symptoms of asperger's syndrome?

See below:: Loneliness; impaired social interaction; impaired non-verbal communication; poor speech. Although there are many possible symptoms of asperger’s syndrome, the main symptom is significant trouble with social situations. ...Read more

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