Genetic Syndromes

Question 1

Apert Syndrome

Answer 1

1. FGFR2 Gene
2. Symptoms: resonance issues, conductive hearing loss
3. Physicalities: skull deformities, large jaw, small/flat nose, wide eyes, webbed fingers/toes

Question 1

Angelman Syndrome

Answer 1

1. UBE3A Gene, Chromosome 15
2. Symptoms: ataxia, learning disability, seizures, stiff gait, hypermetric behavior
3. Physicalities: large mouth, prominent jaw, widely spaced teeth, frequent laughter and smiles, deep set eyes

Question 2

CHARGE Syndrome

Answer 2

1. CHD7 Gene
2. C- coloboma of eye (retina, iris)
   H - heart defect
   A - atresia choanal
   R - retarded growth
   G - genital hypoplasia
   E - ear abnormalities

Question 3

Cri Du Chat Syndrome

Answer 3

1. Short arm of chromosome 5 deletion
2. Symptoms: severe learning disability, congenital heart disease, high pitched cry
3. Physicalities: microcephaly, short stature, poor muscle tone

Question 4

Crouzon Syndrome

Answer 4

1. FGFR2 Gene
2. Premature fusion of skull bones
3. Physicalities: small head, intracranial pressure, malformed teeth, cleft lip or palate, shallow eyes

Question 5

Down Syndrome

Answer 5

1. Trisomy 21 extra chromosome
2. Symptoms: language/articulation issues, cardiac problems, hearing loss
3. Physicalities: upward slanted eyes, small head, short neck, hypotonia

Question 6

Fragile X Syndrome

Answer 6

1. FMR1 Gene, X Chromosome
2. Symptoms: ADHD, pragmatic deficits, intellectual disability
3. Physicalities: Dysmorphic features, large ears, hyperextended fingers, fine/thin skin

Question 7

Hurler’s Syndrome

Answer 7

1. IDUA Gene
2. Symptoms: enlarged liver/spleen, hearing loss, intellectual disability, heart problems
3. Physicalities: flat nasal bridge, thick lips, cloudy corneas, dwarfism, hunchback

Question 8

Landau - Kleffner Syndrome

Answer 8

Unknown cause
Progressive loss of speech and language
Night seizures, behavioral disorders, auditory agnosia
Use EEG to detect

Question 9

Marfan Syndrome

Answer 9

1. FBN1 Gene
2. Symptoms: restrictive lung disease, high arched palate, loose joints, breathlessness & articulation deficits

Question 10

Moebius Syndrome

Answer 10

1. CN VI and VII
2. Symptoms: artic deficits, weak/paralyzed facial muscles, feeding/swallowing issues
3. Physical: facial expression and eye movement, finger abnormalities

Question 11

Nager Syndrome

Answer 11

1. SF3B4 Gene
2. Symptoms: articulation deficits, conductive hearing loss
3. Physical: micrognathia, malar hypoplasia, hammer toes

Question 12

Noonan Syndrome

Answer 12

1. Several diff. genes
2. Symptoms: learning disabilities, developmental delays, feeding issues, sensorineural HL
3. Physical: large ears, short stature, webbed neck, wide eyes, low hairline

Question 13

Pierre - Robin Sequence

Answer 13

1. S0X9 Gene
2. Three main characteristics
   - Micrognathia
   - Glossoptosis
   - Upper airway obstruction
   Cleft palate, ear infections

Question 14

Prader - Willi Syndrome

Answer 14

1. Long arm of chromosome 15 deletion
2. Symptoms: ID, feeding issues (no intake control)
3. Physical: hypotonia, slow growth, short stature, obese

Question 15

Russel - Silver Syndrome

Answer 15

1. Growth genes
2. Symptoms: language/artic deficits, hypernasal, feeding deficits, poor appetite
3. Physical: large head, low birth weight, short stature

Question 16

Stickler Syndrome

Answer 16

1. 1 of 6 gene mutation
2. Symptoms: sensorineural hearing loss, artic deficits
3. Physical: underdeveloped middle face, eye abnormalities, myopia

Question 17

Treacher - Colins Syndrome

Answer 17

1. Symptoms: hypernasality, nasal emissions, hearing loss, feeding issues
2. Physical: underdeveloped facial bones, micrognathia, coloboma, airway obstruction, malformed ears

Question 18

Trisomy 13

Answer 18

1. Extra chromosome 15
2. Symptoms: severe ID, failure to thrive
3. Physical: spina bifida, extra toes/fingers, hypotonia, congenital heart disease, brain abnormalities

Question 19

Turner Syndrome

Answer 19

1. Missing or deformed X chromosome
2. Visual/spatial/attention deficits
3. Swelling of feet, hands, neck

Question 20

Usher Syndrome

Answer 20

1. Autosomal recessive manner
2. Symptoms: language/artic deficits, sensorineural HL
3. Night/peripheral vision loss, 50% deaf and blind

Question 21

Velocardiofacial Syndrome

Answer 21

1. Missing small part of chromosome 22
2. Symptoms: Learning disability, velopharyngeal incompetence, cleft palate
3. Physical: wide nose, small ears, microcephaly, micrognathia

Question 22

Van der Woude Syndrome

Answer 22

Affects the development of the face, causing cleft lip and/or palate, and small pits or mounds of tissue on the lower lip

Question 23

Williams Syndrome (Efin - Face)

Answer 23

1. Deletion from chromosome 7
2. Symptoms: Low IQ, difficulty with conceptual vocabulary, overly outgoing and friendly