Syndromes


 * __ Syndromes __****Standards: III-C**

__Quick Facts to Keep Syndrome Straight__

Apert: autosomal mutations, webbed hands, small skull diameter, intracranial pressure, may have clefting Cri du Chat: problem with fifth chromosome, infant cries like a cat Crouzon: autosomal dominate inheritance, craniosynostosis, hypoplasia, ocular hypertelorism, parrot like nose Down syndrome: extra chromosome 21, hypotonia, flat facial profile, small nose, ears and chin, brachycephaly Fragile X syndrome: leading inherited cause of MR in men, caused by repetition on the X chromosome, large long and poorly formed pinnas, big jam, enlarged testes, and high forehead Hurler’s: autosomal recessive deficiency, dwarfism, gargoyle like face Landau-Kleffner: unknown cause, children lose ability to understand language and speak between ages 3-7 Moebius: mask-like face Pierre-Robin: autosomal recessive, mandibular hypoplasia, glossoptosis, cleft palate, deformed pinna, low ears Prader-Willi: chromosomal deformation, low muscle tone, feeding problems, failure to thrive, obesity, underdeveloped genitals Russell-Silver: asymmetry of arms and legs, large head Turner: in females, problem with X chromosome, ovarian abnormality, no menstruation, and infertility Usher: 50% of deaf and blind, autosomal recessive, Williams: 1/20000, elfin-face syndrome, abnormality in chromosome 7

//References// Roseberry-McKibbin, C., Hegde, M. (2006). An Advanced Review of Speech-Language Pathology (2nd Ed). Texas: Pro-Ed.