Syndromes

Question 1

Normal birth, no obvious defects. Developmental delay, seizures, stiff and jerky gait,happy demeaner, easily excitable, hhpermotoric behavior, hand-flapping movements, and short attention span.

Answer 1

Angelman Syndrome

Question 2

syndactyky (digital infusion) involving second, third and fourth digits, (craniosyntosis) smaller anterior-posterior skull in diameter, flat frontal and occipital bones, high forhead, increased intracranial pressure, midfacial hypoplasia, arched and grooved hard palate, conductive hearing loss, class III malocclusion, thickened alveolar process, long or thickened palate, cleft of the harf palate.

Communication problems: hyponasality, forward carriage of the tongue, artic disorders involving alveolars and labeodental sounds some have normal intelligience.

Answer 2

Apert Syndrome

Question 3

Caused by spontaneous autosomal dominant mutations, Locus id FGR2 at 10q25-26

Answer 3

Apert Syndrome

Question 4

caused by dupilcation of chromosome 15.

Answer 4

Angelman Syndrome

Question 5

high pitched cry resembling cat or infant. Low set ears, narrow oral cavity, laryngeal hypoplasia, microcephaly, hyertelorims, micrognathia, oral clefts.

Communication problems: artic and language disorders typically involving intellectual disability.

Answer 5

Cri du Chat

Question 6

Caused by absence of short arm of 5th chromosome

Answer 6

Cri du chat

Question 7

Craniosynostosis, hypoplasia of midface, maxilla or both, hypertelorism, prostrusion of eyeballs, strabismus, parrotlike nose, facial assymetry, tall forhead, malocclusion class III, highly arched palate, shallow oropharunz, long and thick soft palate and brachycephaly (short head).

Communication problems include conductive hearing loss, artic, abnormalities of the palate, hyponasality, and language disorders.

Answer 7

Crouzon

Question 8

Caused by autosomal dominant inheritance with varied expression in individuals.

Answer 8

Crouzon

Question 9

generalized hypotonia, flat facial profile, small ears, nose, and chin, and brachycephaly, shortened oral and phayngeal structures, narrow and high arched palate, large tongue, short neck.

communication problems: conductive loss, some sensorineural, language delays and disorders, hypernasality and nasal emission, articl.

Answer 9

Down Syndrome

Question 10

Caused by extra chromosome 21.

Answer 10

Down Syndrome

Question 11

Leading inhertited cause of intellectual disability in males. large, long, and poorly formed pinna, bug jaw, enlarged testes, and high forhead.

Communication problems: jargon, perservation, echolalia, inapproariate langage or talking to oneself, lack of gestures and other neonverbal means of communication that normal accompany speech, voice problems and artic problems. autistic like social deficiences.

Answer 11

Fragile X Syndrome

Question 12

Caused by expansion of nucleic acid CGG which repeats too often on the fragile X mental retardation gene, located on bottem end of the X chromosome.

Answer 12

Fragile X Syndrome

Question 13

Most die in early teens or before the age of ten. dwarfism, hunchback, intellectual disability, short and thick bones, low nasal bridge, noisy respiration.

Communication problems: sensorineurall hearing loss, thick, everted lips, large tongue, small malformed teeth, comprimised intellgibility

Answer 13

Hurler’s Syndrome

Question 14

caused by autosomal recessive deficiency of X-L iduronidase.

Answer 14

Hurler’s Syndrome

Question 15

Form of aphasia whereby formaly healthly childern ages 3-7 lose their ability to comprehend language and then speak it. Loss can be sudden or gradual. Some regain abilities and have relapses. Some do not. 80% of children affected develop epilepsy.

Answer 15

Landau-Kleffner Syndrome

Question 16

Unknown cause.

Answer 16

Landau-Kleffner Syndrome

Question 17

Affects body’s conective tissue. Overgrowth of ribs leads to restricted inhalation affecting breath during speech.

Answer 17

Marfan Syndrome

Question 18

Autosamal dominant inherited disoder caused by mutations int he FBN1 gene.

Answer 18

Marfan Syndrome

Question 19

Mandibular hypoplasia, cleft of soft palate, VI, deformed pinna and low set ears, ttemporal bone and ossicular deformities and glossoptosis. Feeding problems.

Communication problems: unilateral or bilateral conductive hearing loss, cleft palate,, delayed language, language disorders, hypernasality and nasal emission, artic and hypercompensatory articulation.

Answer 19

Pierre-Robine Syndrome

Question 20

Caused by autosomal recessive inheritance, may be part of Stickler syndrome.

Answer 20

Pierre-Robine Syndrome

Question 21

Caused by autosomal dominant inheritance and deletionin the region of the long arm of chromosome 15 (15q11-15q13)

Answer 21

Prader Willi Syndrome

Question 22

Physical Characteristics: low muscle tone, early feeding dificulties, failure to thrive initially, obseisity later, underdeveloped genitals.

Communication: hypotonia, altered growth of larynx, narrow overjet, mivrognathia, narrow palatal arch, tooth decay, cognitive sequencing problems, intellectual disability. Language abilities go from normal to nonverbal.

Answer 22

Prader-Willi Syndrome

Question 23

Physical Characteristics: dwarfism, asymmetry of arms or legs, large hear, craniofacial disproportion, mandibular hypoplasia, hgh narrow palate, micodontia.

Communciation: hypernasality, feeding in infancy, artic, expressive and receptive disorder, high-pitched voice.

Answer 23

Russell-Silver Syndrome

Question 24

Phsyical Charactersitics: under developed facial bones, small chin, small cheeks, dental malocclusion, hypoplasia, downward slanted palpebral fissures, colomba of lower eyelid, stenosis of soft balate.

Communication: bilateral conductive hearing loss and sensorineural hearing loss, language disorders, hypernasality, nasal emission, cleft, artic disorders, VPI.

Answer 24

Treacher Collins Syndrome

Question 25

Physical Characteristics: congenital heart defects, severe brain anomalies, spina bifida, severe eye defects, cleft, midline facial deformities

CommunicationL If they live past 1, have profound intellectual disabilities, feeding abilities that requrie nasogastric feeding.

Answer 25

Trisomy 13

Question 26

Caused by missing or deformed X chromosome and only occurs in females.

Answer 26

Turner Syndrome

Question 27

Physical Characteristics: ovarian abonomality, congenital swelling, cardiac defects, low posterior hairline, webbing of neck, broad chest, pigmented skin lesions, narrow maxilla and palate, micrognathia, aurical anomolies, low set elongated cup shaped ears.

Communication: some have evidence of RH dysfunction, cleft palate, sensorineural hearing loss, conductive loss, langage and artic disorders, visual, spatila and attentional problems.

Answer 27

Turner Syndrome

Question 28

Genetic disorder related to 22q11.2

aka Shpriintzen syndrome

most commonly associated with cleft palate.

Answer 28

Velocardial Syndrome

Question 29

Physical Characteristics: Over 180 diff anomolies associated with this disorder. Most commonly associated with cleft palate,

Common communication problems: cleft palate, middle ear infections, learnign problems, speech and feeding problems, unique facial characteristics, artic, language, intellectual disability.

aka Digeorge sequence, shpritzen syndrome.

Answer 29

velocardialfacial syndrome

Question 30

Physical Characteristics: physical resembelence of elves, small boned, short, long upper lip, wide mouth, full lips, small chin, upturned nose, puffiness around eyes. Most have narrowed pumonary arteries and aorta, low IQ

Personality: Over trusting, charming, friendly (even with complete strangers)

AKA elfin-face syndrome

Answer 30

Williams Syndrome

Question 31

Caused by abnormaility on chromosone 7 including a gene that makes protein elastin.

Answer 31

Williams Syndrome