Syndromes Flashcards
1
Q
- chromosome 15 is duplicated from dad or deleted from mom
- seizures, stiff jerky gait, laughter and happy demeanor, easily excitable, hypermotoric bx, hand flapping, short attn span
- few to no words, verbal receptive skills higher than receptive
A
angleman syndrome
2
Q
FGR2 at 10q25-26
- flat frontal and occipital bones and high forehead; increased cranial pressure, compensatory growth in cranial structures
- arched/grooved hard palate, conductive hearing loss, class 2 malocclusion
- hypernasality, forward carriage
- some normal IQ, some w/ mild to mod ID
A
apert syndrome
3
Q
- absence of short arm of 5th chromosome (5p)
- high pitched cry of long duration (resembles cat)
- low set ears, narrow oral cavity, laryngeal hypoplasia, oral clefts
- artic and lang disorders associated w/ ID
A
cri du chat
4
Q
- fusion of cranial suture
- small maxillary, far apart ears, protruded eyeballs, parrot like face, asymmetry
- conductive hearing loss, artic disorders, abnormal palate and oral structures, hypo nasality, lang disorders
A
crouzon syndrome
5
Q
- extra chormosome 21
- hypotonia, flat facial profile, small ears, nose, and chin
- shortened oral/pharyngeal structures, narrow/high arched palate, large tongue, shot neck w/ excess skin
- conductive hearing loss, lang delay/disorders, deficient syntax and morphology
- better vocab
- hypernasal, breathy voice, artic errors
A
down syndrome
6
Q
- expansion of nuclei acid cytosine guanine guanine (CGG); repeats often found on FMR1 gene
- large, poorly formed pinna; big jaw; enlarged testes; high forehead
- jargon, perseveration, echolalia, inappropriate lang/self talk, lack of gestures/nonverbal comm
- males tend to avoid eye contact, withdraw socially, limited attn, hyperactive,
- delays in pragmatics, semantics, phono, and SYNTAX**
A
fragile X
7
Q
- rare, congenital metabolic disease; recessive deficiency on X-L iduronidase
- dwarfism, hunched back, ID, coarse facial features, low nasal bridge
- sensorineural deafness, noisy respiration, vocal fatigue, hoarseness
- compromised intelligibility
A
hurler’s syndrome
8
Q
- aphasia in kids (3-7yo)
- graudual or sudden loss of comprehending and speaking language
- some recover
- 80% develop epilepsy
- some develop hyperactivity, aggression, and depression
A
landau-kleffner syndrome
9
Q
- autosomal, dominant, inherited disorder of mutated FBN1 gene
- affects connective tissue
- overgrowth of ribs causes sternum to push out
- IQ not affected
- 70% have restrictive lung disease
A
marfan syndrome
10
Q
- agenesis or aplasia of motor uncle in CNs
- sporadic, unpredictable occurrence; autosomal dominant inheritance
- facial/hypoglossal nerves and some trigeminal nerves
- bilateral paresis and weak tongue control; paralysis of abductors of the eyes; limited movement of articulators; feeding problems;
- mask like face
- some conductive hearing loss/lang probs.. mostly artic
A
moebius syndrome
11
Q
- mostly caused by autosomal recessive inheritance (can be part of stickler syndrome)
- mandibular hypoplasia; cleft lip/palate, VPI, deformed pinna, low ears, temporal bone and ossicular chain deformities
- tongue is positioned posteriorly
- feeding probs d/t difficulty coordinating
- hearing loss; delayed lang, hpyernasality, artic problsm
A
pierre robin syndrome
12
Q
- autosomal dominant inheritance and deletion of long arm chromosome 15q11-15q13
- low muscle tone, early feeding probs, obesity, excessive eating, underdeveloped genitals
- imprecise artic, oral motor diff, hypernasality, some flat intonation, slow rate, harsh/hoarse voice, abnormal pitch
- DD and IDs; impaired R/E language
- can result in hypotonia, altered growth of larynx, narrow overrate, tooth decay, cog sequencing problems, bx’al disturbances
- newer treatment includes growth hormones and surgery for nasality
A
prader willi syndrome
13
Q
- suspected to be caused by many genetic factors
- low birthweight, small for gestational age, dwarfism
- asymmetry of arms/legs, disproportionately large head, craniofacial disproportion, mandibular hypoplasia, high narrow palate, microdontia (small teeth)
- hypernasality, feeding problems, artic problems, R/E lang disorder, abnormally high pitch
A
russel silver syndrome
14
Q
- inherited neurological disorder
- uncontrollable tics; may include involuntary, inappropriate words and phrases (coprolalia)
- full blown/partial
- males 3-4x more than females
- speculate abnormality in genes affecting metabolism and neurotransmitters
- symptoms usually occur before age 18
- facial tics, grimaces, nose twitcching, throat clearing, grunt, sniff, cough, shout, yelp, bark, echolalia
A
tourette syndrome
15
Q
- autosomal dominant inheritance
- underdeveloped facial bones, dental malocclusion, cheek hypoplasia (small)
- colomba (lesion/cleft of lower eyelid); atresia of external auditory canal, malformed pinna, middle/inner ear malformalities, short/immoble soft palate, suck swallow probs in infancy
- hearing loss; lang disorders; hyper nasality; nasal emission
A
treacher collin syndrome