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What is the neonatal syndrome mentioned by the doctors?


Is it a real disease?

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Courtesy of Wikipedia:
Conradi-Hünermann syndrome is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects between one in 100,000 and one in 200,000 babies.

Description
Conradi-Hunermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi-Hunermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, mental retardation may also be present. While evidence suggests that Conradi-Hunermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported.
The genetics of Conradi-Hunermann syndrome has perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.

Symptoms
Possible symptoms include:
Growth deficiency
Low nasal bridge
Flat face
Down-slanting space between eyelids
Cataracts
Asymmetric limb shortness
Joint shortening or spasms
Frequent scoliosis
Abnormal redness of the skin
Thick scales on infant skin
Large skin pores
Flaky Skin
Sparse hair
Coarse hair and
Bald spots

Treatment
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome to it can live a long and normal life, while males have only survived in rare cases.
http://en.wikipedia.org/wiki/Conradi-H%C3%BCnermann_syndrome
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Just because people can't find it under a misspelling doesn't dismiss this real health issue! I'm tired of people in reviews complaining that there's "no such thing"! It's there for the finding, as I did immediately, without even being certain of the spelling. (I've only heard about it.) If that's not a good enough source, I'm sure I can find information elsewhere.

Thanks to your question, I didn't have to start a thread!

~~MystMoonstruck~~

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