apert syndrome…

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syndactyly, acrocephalosyndactyly, apert syndrome, genetic disease, inherited, a known family history, characterized by premature closure, the seams between the skull bones, peaked head, an unusual facial appearance, apert syndrome is transmitted, an autosomal dominant trait, that only 1 parent needs to have the condition, child to be affected, cases also appear spontaneously, a family history, mutations, gene, fibroblast growth factor receptor 2, mutation causes, the bony sutures, the skull to close prematurely, craniosynostosis, cause asymmetric growth, give the head a distorted shape, face is distinctive-looking, full-length webbing, fusion between the 2nd, 3rd, 4th fingers, the toes, the child grows, bones, in the hands, feet, become progressively fused, reduces flexibility, function, several other syndromes which have a similar appearance, craniosynostosis, premature suture fusion, carpenter syndrome, kleeblattschadel, cloverleaf skull deformity, crouzon disease, craniofacial dysostosis, saethre-chotzen syndrome, pfeiffer syndrome, family history of apert syndrome, skeletal, limb, abnormalities, early closure of sutures between bones, the skull, noted by ridging, along sutures, large, late-closing soft spot on a baby's skull, unusual facial appearance resulting from severe under-development, the mid-face, prominent, bulging eyes, fusion, severe webbing of several adjacent fingers, toes, severe syndactyly, "mitten hands", intellectual development retarded to varying degrees, short stature, hearing loss, frequent ear infections, a skull x-ray which demonstrates premature closure, a clinical exam, confirm the diagnosis of craniosynostosis, premature fusion of skull sutures, hand, foot x-rays, very important, the extent of bone problems, a genetic test, mutations, in the fibroblast growth factor receptor 2 gene, confirm the diagnosis of apert syndrome, hearing tests should also always be given, treatment consists of surgery, the skull, mid-face, palate, after evaluation by a multispecialty cranio-facial surgery team at a children's medical center, to optimize treatment of hearing problems, a hearing specialist, apert syndrome pen pals, 401, 454-4849, prognosis, from child to child, congenital abnormalities, exist, evaluated on an individual basis, family history of apert syndrome, asymmetric growth, the skull in baby, genetic counseling of value to prospective parents, prenatal diagnosis is available.