waardenburg syndrome…

Medical experts recommend this detailed explanation.

[ Find Organization | Index Page ]

broad nasal bridge, sense of hearing, waardenburg syndrome, group of hereditary conditions characterized by deafness, partial albinism, pale skin, hair, eye color, waardenburg syndrome is inherited, an autosomal dominant trait, meaning only 1 parent has to pass on the gene, child to be affected, 4 types of this syndrome, type 3 is known, klein-waardenburg syndrome, type 4 is waardenburg-shah syndrome, multiple types of this syndrome result from mutations occurring in different genes, all types share 2 dominant features, hearing loss, partial albinism, albinism is incomplete, appear, a white forelock in an otherwise dark head of hair, very pale light-blue eyes, different-colored eyes, individuals, have wide separation, the inner corners, the eyes, a broad nasal bridge, color changes, the skin, waardenburg syndrome affects, 1 in every 30,000 people, 90% of patients have an affected parent but the symptoms, in the parent, quite different from those, in the child, family history of parent, waardenburg syndrome, extremely pale blue eyes, eye colors that don't match, heterochromia, white forelock of hair, early graying, the hair, deafness, variable degree, slight decrease in intellectual functioning, occasional cleft lip, constipation, possible difficulty, completely straightening joints, contracture, examination, various abnormalities, lateral displacement of inner canthi, corners of eye, eyebrows flare, in the midline, broad nasal bridge, deafness, pale-to-white portions of eye, the eye, under-developed bones, the face, white patches of skin, audiometry, hearing evaluation, genetic testing, the pax3 gene on chromosome 2q35, genetic testing, the mitf gene, type 2 waardenburg syndrome, on chromosome 3p13, tests showing that stool doesn't move, the large bowel, biopsy, the colon showing no neural ganglia, hirschsprung disease, in type 4 patients, genetic testing, the endothelin-3, endothelin receptor b, sox10 gene in patients, waardenburg syndrome type 4, no specific treatment is available, waardenburg syndrome, attention must be paid to any hearing deficits, hearing aids, appropriate schooling needed, type 4 patients, constipation, require special attention to diet, medications to keep bowels moving, correction of hearing deficits, able to lead a normal life, hearing loss, self-esteem problems, problems related to cosmetic appearance, constipation severe, require part of large bowel to be removed, slight increased risk, muscle tumor, rhabdomyosarcoma, slight decreased intellectual functioning, unusual, genetic counseling helpful, have family history of waardenburg syndrome, plan to have children, hearing test, child has deafness, decreased hearing, genetic counseling valuable, prospective parents, a family history of waardenburg syndrome.