SLP Praxis: Genetic Syndromes Questions and Answers Latest Version Graded A+

SLP Praxis: Genetic Syndromes Questions and Answers Latest Version Graded A+ What genetic syndrome is most commonly associated with an elongated face, large ears, and intellectual disability? Fragile X syndrome Which genetic disorder often includes a cleft palate, heart defects, and a characteristic “fish- shaped” mouth? Velocardiofacial syndrome (22q11.2 deletion) What genetic condition is associated with a flat facial profile, upward-slanting eyes, and increased risk for hearing loss? Down syndrome Which syndrome is caused by a deletion on the paternal copy of chromosome 15 and often includes hypotonia and feeding difficulties in infancy? Prader-Willi syndrome 2 Which genetic condition is characterized by a small jaw, glossoptosis, and frequently a cleft palate? Pierre Robin sequence Which syndrome is associated with abnormal growth of facial bones, exophthalmos (bulging eyes), and often affects speech due to abnormal resonance? Crouzon syndrome What syndrome includes broad thumbs, intellectual disability, and often affects expressive language skills? Rubinstein-Taybi syndrome Which syndrome is associated with laryngomalacia, sensorineural hearing loss, and white forelock of hair? Waardenburg syndrome Which disorder involves hand-wringing behavior, loss of purposeful hand use, and is primarily seen in girls? Rett syndrome 3 Which syndrome is characterized by high-pitched cry in infancy, intellectual disability, and microcephaly? Cri du chat syndrome What syndrome is associated with a “butterfly” vertebrae, hoarse voice, and an overly friendly personality? Williams syndrome Which syndrome may present with seizures, developmental delay, and a happy demeanor with frequent laughter? Angelman syndrome Which condition results from a deletion on the maternal copy of chromosome 15 and leads to severe speech impairment? Angelman syndrome Which syndrome often presents with a webbed neck, low-set ears, and delayed speech development in females? 4 Turner syndrome What syndrome is associated with intellectual