Disease Information for Weaver syndrome (Marshall-Smith): Definition

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  • A syndrome of overgrowth of prenatal onset, advanced bone age, retarded psychomotor development, widened distal long bones, camptodactyly, and distinctive craniofacial appearance marked by large ears, broad forehead, hypertelorism, and long philtrum; Weaver syndrome is considered a variant of the Marshall-Smith syndrome but, according to some authors, these are separate entities with share some common features, including are abnormal bone maturation, accelerated growth, and delayed development but differ in their craniofacial dysmorphism; Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia, and glossoptosis); respiratory disorders, hypertrichosis, and early death uniquely characterize the Marshall-Smith syndrome; A syndrome marked by symptoms similar to those in the Weaver syndrome with hyperprogesteronemia and maternal luteoma and one with cleft lip, accessory nipples, pectus excavatum, bifid xiphoid process, abnormal vertebral bodies, and inflexible right thumb are referred to as the Weaver-like syndrome--------[Joblonski/NIH Anomaly Archive]-------- Gene locus 5q35

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