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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q
  • extra copy of chromosome 13
  • severe birth defects
  • hear defects, brain probs, spina bifida, severe eye defects*, extra fingers/toes (polydactyly)
  • midline cleft of face
  • many die before 1yo; if live, have profound ID and feeding difficulties
A

trisomy 13

17
Q
  • only in females; similar syndrome in men (noonan)
  • ovarian abnormality, absence of menstruation, swelling feet, neck, hands; webbed neck, lower hairline in back
  • broad chest w/ widely spaced nipples, narrow maxilla/palate, small lower jaw, abnormally shaped ears, thick earlobes, high palate, maybe some cleft
  • many have sensorineural hearing loss, middle ear infections, lang/artic problems, visual/spatial/attn problems
A

turner syndrome

18
Q
  • elfin face syndrome
  • rare genetic disease
  • small, boned and short, long upper lip, wide mouth, small chin, upturned nose, puffy eyes
  • abnormality in chromosome 7; 7q11.23
  • IQ b/w 50-70 but show high intelligence in certain areas,
  • charming personalities, courteous, loving, unafraid of strangers
  • dental occlusion; narrowed arteries; widely spaced teeth
A

williams syndrome

19
Q
  • associated w/ cleft palate
  • part of chromosome 22 is missing: 22.q11.2
  • middle ear infections, learning probs, speech/feeding probs, unique facial characteristics
  • wide nose, small ears, almond shaped eyes, elongated face
  • significant lang and artic problems; ID
  • feeding problems d/t pharyngeal hypotonia; oral apraxia, nasal regurgitation
A

velocardiofacial syndrome VCFS