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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...

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Weissenbacher Zweymuller...
Werdnig-Hoffmann disease
Werner's syndrome
Whipple disease
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Willebrand disease
Willebrand disease, acquired
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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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From Spokesman Review, The (Spokane), 7/13/97 by Virginia de Leon Staff writer

Kaylin Yamada is 9 years old, 3 feet tall and weighs just 35 pounds.

She doesn't speak and still wears diapers.

A year ago, she walked for the first time. "Say goodbye, Kaylin," coos her father, Jerry Yamada. "Say bye-bye." She rolls her head back, looks up and flaps a skinny left arm. She smiles - a big, toothy grin that makes one forget about her frail, little body. Kaylin has 4-P Minus Syndrome, a rare chromosome disease that leaves its victims with a variety of disorders including hearing loss, seizures, and growth and mental retardation. Also known as Wolf-Hirschhorn syndrome, it strikes only one out of every 80,000 people and medical professionals still know little about it, Jerry Yamada says. That's why several families from all over the country get together annually to help each other cope and understand the disease. This weekend, they're meeting in Spokane at Dynamic Christian Academy Daycare & Preschool, where families from all over the United States and Canada are sharing their stories. "It was like experiencing a death," says Dawn Yamada, recalling the day Kaylin was born at Sacred Heart Medical Center. "We mourned. This was not the child we planned for." Kaylin has big, green eyes set wide apart on her little face. She has a cleft palate. Her brown legs are each the width of an empty toilet paper roll. With long, thin fingers, she clutches the hands of strangers. Without hesitating, she walks up to them, pleading with her eyes to be picked up and held. Every child has challenges, says Dawn Yamada, but it's especially difficult for parents whose children have 4-P. It's like caring for a baby, she says. "It opened up a whole new world for us," says Jerry Yamada. "It has brought our family closer together." The biggest challenge, parents say, is finding information about the disease and sharing the pain with people who understand. It's only in groups such as the one this weekend that they find that. On Saturday, they sat a circle surrounded by photo albums and thick binders full of medical articles. The parents shared doctors' names, medical information, progress reports. Some of their children sat in wheelchairs, moaning softly on occasion. Others slept, cradled in their parents' arms. Because of the lack of medical information, those in the circle each have their stories of frustration. Many were told by doctors that their children wouldn't survive. But they lived. The days turned into months, and the months became years. Some of the 4-P patients who were supposed to die before their fifth birthday are now in their 20s and 30s. "We've taught the doctors," says Larry D. Bentley of Portland, the father of a 22-year-old man with 4-P. "We've been through it all." But because it's such a rare disease, many families don't realize they're not the only ones out there who are struggling to take care of their children. "I'm sitting here overwhelmed with feelings that I don't understand," says Dorothy Bannon, the mother of a 47-year-old daughter with 4-P who had just recently heard about the 4-P support group. "I feel as if I've been isolated on an island." Despite the feelings of anxiety and frustration many parents express, they also share stories about their children - their favorite games, their habits, whether they've learned to use the potty. "He's so loving," says Sharon York of her 33-year-old son, Jon, a little man with a curly brown hair, a goatee and gentle disposition. "He rarely cries. He loves to travel." During a recent trip to Washington D.C., Jon would eat only frozen yogurt and pork fried rice, she says. Sitting on the floor with his legs crossed, Jon looks briefly at his mother then glances up to the pink balloon tied to his wrist. His body seems limp like a ragdoll, but he moves his head constantly to look around. Normally silent, Kaylin suddenly walks to the center of the room where she bursts into laughter - a high-pitched titter that sends everyone else chuckling. She brings her hands together, shaking them in the air as if she were trying to clap. "They love attention just like other kids," says Dawn Yamada. "They're really happy kids."

Copyright 1997 Cowles Publishing Company
Provided by ProQuest Information and Learning Company. All rights Reserved.

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