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Aarskog syndrome

Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. Intelligence is usually normal. more...

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Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome, specifically Xp11.21.

It is also known as, Aarskog-Scott syndrome (ASS), Greig syndrome, facial-digital-genital syndrome, facio-digito-genital syndrome, and shawl scrotum syndrome.

DescriptionMultiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype.

Features

  • mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
  • possible delayed sexual maturation
  • rounded face
  • hairline has a "widow's peak"
  • wide set eyes with droopy eyelids
  • small nose with nostrils tipped forward
  • underdeveloped mid-portion of the face
  • wide groove above the upper lip, crease below the lower lip
  • delayed eruption of teeth
  • top portion of the ear folded over slightly
  • small, broad hands and feet with short fingers and in-curving 5th finger
  • short fingers and toes with mild webbing
  • simian crease (single) in palm of hand
  • protruding belly button
  • inguinal hernias
  • "shawl" scrotum, undescended testicles
  • mild to moderate mental deficiency
  • eyes have downward palpebral slant
  • pectus excavatum (mildly sunken chest)
  • head nad neck- round face, broad forhead, hypoplastic ridging of the metopic sutures, and maxilla with relative mandibular prognathism
  • ears- thickness and fleshiness of the earlobes
  • Eyes: Hypertelorism, enlarged corneal diameter, downslanting palpebral fissures, blepharoptosis, and ophthalmoplegia.
  • Mouth and oral structures: A curved depression below the lover lip may be associated
  • Abdomen: Prominent umbilicus is frequent
  • Hand and foot: Tissue webbing between fingers and joint hypermobility with a pronounced hyperextension and flexion of the interphalangeal joints. Some patients exhibit fifth finger clinodactyly. The feet are flat, broad, and small with bulbous toes. Metatarsal abduction occurs in about half of all cases. Dermatoglyphic findings consist of single palmar creases.
  • Extremities: Joint hyperlaxity
  • Spine: Spina bifida occulta, cervical vertebral defects, hypoplasia of the first cervical vertebra with unfused posterior arch, and subluxation of the first and second cervical vertebrae
  • Urogenital system: Shawl scrotum
  • Behavior and performance: Hyperactivity and attention deficit are frequent
  • Heredity: Transmitted as an X-linked trait. Napped to the short arm of chromosome X (Xp11.22)

for pictures see=

Read more at Wikipedia.org


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Tech support
From Deseret News (Salt Lake City), 10/13/03 by Elaine Jarvik Deseret Morning News

Several times a day, Robin Olson pulls up her chair to join a virtual circle of people looking for emotional support.

Olson lives in St. George, too far away to attend a face-to-face weekly support group of people who, like her, have had gastric bypass surgery. Instead, like a growing number of Americans, she gets her empathy online.

Like the in-person groups they're modeled after, these virtual groups bring together strangers with a common need to be heard, understood, consoled.

Online support groups exist for everything from Aarskog syndrome to xeroderma pigmentosum, and all the eating disorders and ritual abuse in-between. The groups offer factual information as well as the kinds of encouragement, camaraderie and sympathy that are staples of face-to-face groups.

The only thing missing is someone to pass around the box of Kleenex.

"I have a husband, but he doesn't understand what I'm going through," said Olson about her need to reach out across the Internet to other people who have had gastric bypass surgery. "You need the support of other people" -- the kind of people who understand how hard it is, say, to eat only three-quarters cup of food per meal when food used to be what brought them comfort.

For people with depression, online support groups provide human contact even if the humans don't have the energy to leave home, according to Vicki Cottrell, executive director of the Utah chapter of the National Alliance for the Mentally Ill.

"At some point in whatever phase of the illness you're in, there are times when you don't want to go out, or you don't like the feeling of a big group," Cottrell said. The Internet provides a "private and yet-not-private place."

NAMI-Utah is exploring starting its own online support group, Cottrell said.

In the meantime, there are national mental health groups, such as the Depression and Bi-polar Support Alliance, that have begun online support.

"A lot of our folks feel really isolated," said Lisa Goodale, the alliance's constituency relations director. The organization offers more than 1,000 face-to-face support groups around the country and a once-a-week session online -- in real time -- moderated by a trained facilitator.

The Utah-based Bariatric Support Centers International also does a weekly real-time group, moderated by a surgeon, and New York's Cancer Care offers small online groups moderated by oncology social workers.

Most groups, though, just provide chat rooms and message boards.

"The task for grievers is to tell the story (of their loss) until they integrate it," said Dr. Cendra Lynn of GriefNet's online support group.

"In an e-mail support group, you don't have to take your turn. If you get up at 3 a.m. and want to write for an hour, that's fine. You get to tell your story. . . . What we're offering is a safe place to grieve. We get dozens and dozens of thank-you letters from people who say, 'This place has saved my life.' "

GriefNet does its best to screen its users, Lynn said, "but we're not the FBI." So it's against the rules of the support group to reveal addresses and phone numbers.

And users are asked to not discuss "sensitive topics" -- which, she said, "turns out to be religion."

The discussions are monitored to make sure users comply.

"I'm a very private person," said Wendy Wilson of Sandy, who uses the Bariatric Support Center's e-mail forums.

"I have a tendency in (face-to-face) groups to sit there and not say anything."

Even online, she said, "I lurked around for a year or so" -- the virtual equivalent of someone who might come to an in-person support meeting but stand out in the hall.

Now she's a regular.

"Everyone who has had this surgery has done it to survive, to live," Wilson said. So even though a lot of the online questions and discussions are about cottage cheese recipes and how to find a restaurant that serves tiny portions, and even though there is not a real circle of people who can reach out and give her a hug, much of the chat, she said, is "emotion-packed."

E-MAIL: jarvik@desnews.com

Copyright C 2003 Deseret News Publishing Co.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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