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Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first described in 1961 by U. Wolf and K. Hirschhorn and their co-workers. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4. more...

Waardenburg syndrome
Wagner's disease
WAGR syndrome
Wallerian degeneration
Warkany syndrome
Watermelon stomach
Wegener's granulomatosis
Weissenbacher Zweymuller...
Werdnig-Hoffmann disease
Werner's syndrome
Whipple disease
Whooping cough
Willebrand disease
Willebrand disease, acquired
Williams syndrome
Wilms tumor-aniridia...
Wilms' tumor
Wilson's disease
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolman disease
Wooly hair syndrome
Worster-Drought syndrome
Writer's cramp

Signs and symptoms

The most common abnormalties seen include severe to profound mental retardation, microcephaly, seizures, hypotonia, and cleft lip and/or palate. Characteristic facial features, include strabismus, hypertelorism, down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry. Occasional abnormalities include heart defects, hypospadias, scoliosis, ptosis, fused teeth, hearing loss, delayed bone age, low hairline with webbed neck, and renal anomalies. They are described as happy, loving children.


Wolf-Hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial transolcation, there is a 2 to 1 excess of maternal transmission. However, the de novo cases, 80% are paternally derived. The symptoms and phenotype does not differ bases on the size of the deletion. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluroescent in situ hybridization (FISH). Genetic testing and genetic counseling is offered to affected families.


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Disabled ride high on special day
From Deseret News (Salt Lake City), 9/26/04 by Deborah Bulkeley Deseret Morning News

MURRAY -- Catherine Houston thought her 10-year-old daughter's disability would cause her to miss out on a horseback ride.

Mary Catherine, who suffered spinal meningitis as an infant, lacks the upper body strength to sit up on her own, and is blind, Houston said.

She watched in amazement as Mary Catherine was lifted on to a horse Saturday at Recreation Day for people with disabilities at Jordan River Parkway Germania Pavilion.

"I was so afraid. She doesn't have any upper body control," Houston said.

She saw signs that her daughter enjoyed the ride, assisted by staff of Courage Reins Therapeutic Riding Stable.

"She was holding on to the saddle. Normally she doesn't like to touch things. She touched its nose on purpose," Houston said.

The activities at Recreation Day ranged from riding a bike to face painting to arts and crafts to canoe rides.

"Every activity here is 100 percent accessible to people with any type of disability," said Cynthia Proctor, executive director of Salt Lake Advocacy and Community Training, which sponsored the event.

This is the fifth year of the free community event, which is designed to help people with disabilities find out what services are available, and to make them accessible, Proctor said.

"We deal with a lot of abuse, it's nice to see the other side of things -- people having a good time together," Proctor said.

Heidi McKeever of Draper said the event gives her 10-year-old daughter Chloe, who has Wolf-Hirschhorn syndrome, a chance to participate in activities along with her 6-year-old brother Manny.

"It's fun for Chloe," she said. "It's something a little more focused for her. She's watched a lot of T-ball games, etc."

Vicki Armstrong, who directs Courage Reins, said horseback riding can help those with disabilities develop muscles needed to walk because a horse's walk is the same as a person's. Riding is an effective form of therapy because it keeps children motivated, she said.

"Kids enjoy the rides," she said. "They enjoy the motion, learning a new skill."

The event wasn't just for children; people of all ages were waiting for a canoe ride.

"It looks like there are a lot of cool activities for people to come out and participate in," said Amanda Darron of Camp Kostopulos, a summer camp for people with disabilities. Along with SPLORE, which provides accessible outdoor adventures, they provided the canoes.

Salt Lake ACT is a nonprofit organization specializing in individual and group advocacy, abuse prevention training, and helping people with disabilities live, work and play safely within the community. ACT was established as Arc of Salt Lake County in 1956. It changed its name last year.


Copyright C 2004 Deseret News Publishing Co.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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