Syndromes

Question 1

• 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

Answer 1

angleman syndrome

Question 2

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

Answer 2

apert syndrome

Question 3

• 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

Answer 3

cri du chat

Question 4

• 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

Answer 4

crouzon syndrome

Question 5

• 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

Answer 5

down syndrome

Question 6

• 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**

Answer 6

fragile X

Question 7

• 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

Answer 7

hurler’s syndrome

Question 8

• 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

Answer 8

landau-kleffner syndrome

Question 9

• 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

Answer 9

marfan syndrome

Question 10

• 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

Answer 10

moebius syndrome

Question 11

• 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

Answer 11

pierre robin syndrome

Question 12

• 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

Answer 12

prader willi syndrome

Question 13

• 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

Answer 13

russel silver syndrome

Question 14

• 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

Answer 14

tourette syndrome

Question 15

• 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

Answer 15

treacher collin syndrome

Question 16

• 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

Answer 16

trisomy 13

Question 17

• 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

Answer 17

turner syndrome

Question 18

• 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

Answer 18

williams syndrome

Question 19

• 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

Answer 19

velocardiofacial syndrome VCFS