1
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
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
- / 2