rubinstein-taybi syndrome…

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polydactyly, an infant's hand, rubinstein syndrome, rubinstein-taybi syndrome, genetic disease characterized by mental deficiency, broad thumbs, toes, short stature, characteristic facial features, rubinstein-taybi syndrome, rts, rare condition, affecting, 1 in 125,000 people, gene involved in rts, creb binding protein, crebbp, was identified in 1995, most patients have mutations, in the gene, resulting in an abnormal creb binding protein, 10% of patients, typcially, more severe problems, have an outright deletion, the gene, not make any, the protein, most cases, sporadic, likely, due to a new mutation occurring, fetal development, was not passed on by either parent, inherited in an autosomal dominant fashion, that, one parent passes on the defective gene, child, classic feature is broad thumbs, great toes, is also short stature, unusual face, low-set ears, port-wine-stain, undescended testicles, in the male, downward slant, the eyes, broad thumbs, great toes, slow development of both cognitive, motor skills, low muscle tone, mental retardation, short stature that is noticeable after birth, excess hair on body, hirsutism, heart defects possibly requiring surgery, 40% of patients) , constipation, hypoplastic, underdeveloped, maxilla, bone, in the midface, narrow palate, crowded teeth, an unsteady, stiff walking gait, downward-slanted eyes, low-set ears, malformed ears, drooping eyelid, ptosis, cataract, coloboma, a defect, in the iris, the eye, cryptorchidism, testicular problems, macrocephaly, excessively large head, microcephaly, excessively small head, skeletal, limb, abnormalities, the last segment, the other fingers, toes, appearing broad on x-rays, physical examination, thick, arched eyebrows, long eyelashes, narrow, recessed mouth, crowded teeth, prominent, "beaked" nose, absent, extra kidney, kidney, bladder, genetic, mutation testing, deletion testing, crebbp gene is missing, no specific treatment, rubinstein-taybi syndrome, symptoms mental retardation, speech, cognitive therapy, surgical repair of thumbs, great toes, improve grasp, relieve discomfort, not be necessary in all cases, additional resources, rubinstein-taybi parents group usa, call 888-447-2989, rubinstein-taybi, majority of children, learn to read at an elementary level, majority have delayed motor development, on average, learn to walk by 2 1/2 years of age, complications vary depending on the symptoms, feeding difficulties, common in infancy, recurrent ear infections, hearing loss, abnormal heart structures at birth, abnormal heart rhythms have been reported, an increased risk, keloid formation, the skin, child, developing, a geneticist is appropriate provider finds signs of rubinstein-taybi syndrome broad thumbs, toes, genetic counseling is advised, parents, a family history of this disease who, planning a pregnancy.