syndromes Flashcards
Cranial fusion, hypolasia of face, eyes far apart
Conductive hearing loss, palatal or oral cavity abnormalities
Crouzon
Very high pitch cry, low set ears
Oral clefts, narrow oral cavity, artic and language disorders
Cri du Chat
Facial and motor ties
Uncontrollable vocal sounds, repeated involuntary movements, involuntary inappropriate words/phrases
Tourette
Hypotonia, flat face, small features, heart problems
Hearing loss, language delays, artic disorders (hypotonia, macroglossia)
Down Syndrome
Seizures, happy, hand flapping
Varied number of toes and fingers, sunken middle fingers
Short attention span, cleft palate, underdeveloped jaw and crowded teeth, hyponasal
Angelman Apert
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
Turner
Withdrawn socially, autism-like deficiencies
Echolalia, perseveration, lack of gestures/non-verbals
Fragile X
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
Usher
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.
treacher collins
Life endangering birth defects, congenital heart defects, brain abnormalities, spina bifida, eye defects, extra fingers/toes
Cleft lip/palate
trisomy 13
Dwarfism
Fatigue, hoarseness, compromised intelligibility
Hurler’s
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
williams
