Syndrome Classifications Flashcards
Down syndrome:
an extra whole ?
key characteristics:
hypo
flat
small
shortening of the fetal head also known as
protruding
speech:
language
hearind
…nasality
nasal
breathy
..disorders
number chromosome 21,
47 chromosomes rather than 46
hypotonia
flat facial profile
small ears nose and chin
occipitofrontal diameter
tongue
delays
loss
hypernasality
nasal emissions
breathy voice
articulation disorders
Angelman syndrome:
chormosome 15 is ?
key characteristics:
…
stiff and jerky
..demeanor
eaily
hyper
hand ? and short ?
speech: few or no
…comm.
verbal receptive skills are higher than
duplicated from father or deleted from mother
seizures
gait
laughter and happy demeanor
excitable personality
hypermotoric
hand flapping and short attention span
words
nonverbal comm.
verbal expressive skills
CRI DU Chat syndrome:
absent short
key characteristics:
high pitched
cry resembles
speech:
articulation and language disorders typically assoc. with ?
physical characteristics:
low set
narrow
laryngeal
microcephaly
short arm of the fifth chromosome
cry of long duration / cat
assoc. with intellectual disability
ears
narrow oral cavity
laryngeal hypoplasia
microsephaly (small head)
Turner syndrome:
cause: a chromosomal disorder that occurs when there is a missing ? or an ?
key characteristics:
femaled need to have both ? therefore this disorder only affects
speech: sensorineural
intellectual
language disorder related to
and an ? related to oral structural abnormalities
X chromosome or an abnormality of X chromosome
X chromosomes
females
hearing loss
disability
hearing loss
articulation disorder
Landau-Kleffner:
rare progressive … disorder with ..onset
regression in language skills particularly affecting … before…
onset is most commonly?
epileptic / childhood
receptive/ expressive
5-7
autosomal recessive deficiency in X-L idunorase
dwarfism, hunchback , short thick bones, sensorineural deafness, noisy respiration
intellectual disability, vocal fatigue hoarseness due to metabolities in the larynx
Hurler’s syndrome
agenesis or aplasia of motor nuclei
involvment of facial and hypoglossal nerves and sometimes trigeminal
labial/lingual difficulty with control and weakness, feeding diff., conductive hearing loss
Moebius syndrome
autosomal dominant inheritance
craniosynotosis, hypoplasia of midface, maxilla or both, hypertelorism (eyes far apart)
class III malocclusion, conductive hearing loss, articulation disorders, hyponasality, language disorders
Crouzon syndrome
FGR2 at 10q25-26
varied number of fingers and toes fused, head unable to grow normally, sunken appearence, beaked nose, bulging and wide-set eyes
underdeveloped upper jaw leading to crowded teeth, thickened alveolar process, long thickened soft palate, cleft palate, hyponasality, alveolar consonants, and labiodental sounds affected
Apert syndrome
missing or deformed x-chromosome
ovarian abnormality, swelling of feet neck and hands, cardiac defects, webbing of the feet
right hemisphere dysfunction, hearing loss, ear infections, language and artic. disorders, visual spatial and attentional problems
turner syndrome
autosomal recessive inheritance and x linked in rare cases
50% deaf and blind , night blindness, limited peripheral vision
cochlear abnormalities, sensorineural hearing loss, language and artiuclation disorders, hypernasality, nasal emission
usher syndrome
An autosomal dominant inheritance or spontaneous mutation
Symptoms: upper airway?
underdeveloped ? mandibular hypoplasia
coloboma (lesion of lower eyelid) , stenosis, malformations of ear
speech and language: hearing loss, hypernasality, nasal emission, articulation disorders
Treacher collins
Autosomal dominant inherited disorder
symptoms: bone overgrowth, loos joints and restrictive lung disease
shortness of breath during speech
Marfan syndrome
cause: suspected to be caused by genetic factors although info about etiology scarce
symptoms: low brith weight, dwarfism, asymmetry of arms and legs, craniofacial disproportion, mandibular hypoplasia, micrdontia (small teeth)
speech and langauge: hypernasality, feeding problems infancy, language disorders, high pitched voice
Russell-silver
abnormality to chromosome 7: gene that makes protein elastin
elfin-face syndrome: small boned and short upper lip, puffiness around eyes, low IQ but can have intelligence for music, language and interersonal skills, not afraid of strangers, narrowed pulmonary arteries and aorta
speech and language: difficulty with conceptual and relational vocab, short term memory relative strength
Williams syndrome
