Syndromes- SLP

Question 1

Crouzon

Answer 1

Cranial fusion, hypolasia of face, eyes far apart
Conductive hearing loss, palatal or oral cavity abnormalities

Question 2

Cri du Chat

Answer 2

Very high pitch cry, low set ears
Oral clefts, narrow oral cavity, artic and language disorders

Question 3

Tourette

Answer 3

Facial and motor ties
Uncontrollable vocal sounds, repeated involuntary movements, involuntary inappropriate words/phrases

Question 4

Down Syndrome

Answer 4

Hypotonia, flat face, small features, heart problems
Hearing loss, language delays, artic disorders (hypotonia, macroglossia)

Question 5

Angelman Apert

Answer 5

Seizures, happy, hand flapping
Varied number of toes and fingers, sunken middle fingers
Short attention span, cleft palate, underdeveloped jaw and crowded teeth, hyponasal

Question 6

Turner

Answer 6

Females only, ovarian abnormalities, swelling, heart defects, webbing of the neck, low posterior hairline
R. hemisphere dysfunction, hearing loss, ear infections, language and articulation disorders, visual/spatial/attention problems

Question 7

Fragile X

Answer 7

Withdrawn socially, autism-like deficiencies
Echolalia, perseveration, lack of gestures/non-verbals

Question 8

Usher

Answer 8

50% are deaf and blind, night blindness, limited peripheral vision
Cochlear abnormalities, SNHL, lang and artic disorders, consistent with hearing impairment, hypernasality, and nasal emission

Question 9

Treacher Collins

Answer 9

Upper airway obstruction, underdeveloped facial bones, mandibular hypoplasia, stenosis, malformation of ears
Hearing loss, hypernasality, nasal emissions, articulation disorders with hearing loss and oral structures.

Question 10

Trisomy 13

Answer 10

Life endangering birth defects, congenital heart defects, brain abnormalities, spina bifida, eye defects, extra fingers/toes
Cleft lip/palate

Question 11

Hurler’s

Answer 11

Dwarfism
Fatigue, hoarseness, compromised intelligibility

Question 12

Williams

Answer 12

Elfin face (small boned and short, with full lips, puffy eyes) Low IQ, high intelligence for music/lang, not afraid of strangers, dental problems, narrowed arteries and aorta, REALLY HAPPY !
Difficulty with conceptual and relational vocabulary, short term memory is a strength

Question 13

Prader-Willi

Answer 13

Short stature, low muscle
Cognitive impairments, constant hunger, obesity