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Etiology

Terms in this set (30)

Angelman Syndrome
-Cause: chromosome 15
-Symptoms: seizures, stiff and jerky gait, happy manner, easily excitable personality, hypermotoric behavior, hand-flapping
-S/L: short attention span
Apert Syndrome
-Cause: FGR2 at 10q25-26
-Symptoms: varied number of fingers and toes are fused together (syndactyly), head is unable to grow normally, sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose
-S/L: underdeveloped upper jaw leading to crowded teeth and class III malocclusion, thickened alveolar process, long or thickened soft palate, cleft palate, hyponasality, alveolar consonants, and labiodental sounds affected
Beckwith-Wiederman Syndrome
macroglossia
Cri du Chat Syndrome
Cause: absence of short arm of 5th chromosome
Symptoms: high pitched cry like a cat, low set ears
S/L: narrow oral cavity, laryngeal hypoplasia, microcephaly, micrognathia, oral clefts, articulation and language disorders
Crouzon Syndrome
Cause: autosomal dominant inheritance
Symptoms: craniosynostosis (fusion of the cranial suture --> conductive hearing loss) and hypoplasia of the midface, maxilla, or both, hypertelorism (eyes that are far apart)
S/L: class III malocclusion, conductive hearing loss, articulation disorders associated with hearing loss and abnormalities of the palatal oral cavity, hyponasality, language disorders
maxillary advancement is helpful
Down syndrome
Cause: extra chromosome 21
Symptoms: Hypotonia, flat face, small ears/nose/chin. brachycephaly
S/L: hearing loss, language delays, articulation disorders
older students have difficulty with final consonant deletion
Fragile X Syndrome
leading cause of intellectual disabilities in men, sons of women carriers have 50% chance of inheriting
cause: CGG nucleic acid repeats
Symptoms: dysmorphic facial features, avoid eye contact, withdrawn socially, limited attention spans, autistic-like deficiencies
S/L" jargon, perseveration, echolalia, lack of gestures/nonverbals
Goldenhar Syndrome
symptoms: incomplete development of ears, nose, soft palate, lip, mandible
S/L: feeding difficulties due to unilateral facial weakness
Hurler's Syndrome
**1 out of 10,000 births, usually die before 10 years
-Cause: deficiency in X-L iduronidase
-Symptoms: dwarfism
-S/L: fatigue and hoarseness when talking, compromised intelligibility
Landau-Kleffner Syndrome
-Symptoms: seizures
-S/L: sudden/gradual aphasia between ages 3-7, difficulty comprehending and speaking language
Moebius Syndrome
Cause: agenesis or aplasia of motor nuclei of cranial nerves
Symptoms: 5,7,12 nerves involved
S/L: labial/lingual difficulty with control and weakness, feeding issues in infancy, conductive hearing loss
Nager Syndrome
-Symptoms: small jaw (micrognathia) causing airway obstructions
-S/L: underdeveloped cheek bones, cleft palate, conductive hearing loss
Pierre-Robin Syndrome/Stickler
-Cause: interference with the normal development of the mandible during early gestation
-Symptoms: micrognathia, glossoptosis, joint problems
-S/L: cleft palate
-mandibular lengthening because of temporary airway obstruction
Prader-Willi syndrome
cause: deletion in long arm of chromosome 15
symptoms: short stature, low muscle tone
S/L: cognitive impairments, constant feeling of hunger
Russell-Silver Syndrome
-Symptoms: low birth weight, dwarfism, asymmetry of arms and legs, craniofacial disproportion, mandibular hypoplasia, microdontia (small teeth)
-S/L: hypernasality, feeding problems in infancy, articulation, language disorders, high pitched voice
Tourette Syndrome
symptoms: facial tics, other motor tics
S/L: uncontrollable vocal sounds and repeated involuntary movements or involuntary inappropriate words and phrases
Treacher Collins Syndrome
Cause: autosomal dominant inheritance or spontaneous mutation
Symptoms: upper airway obstruction, underdeveloped facial bones, mandibular hypoplasia, Coloboma (lesion or defect of lower eyelid), stenosis, malformations of the ear
S/L: hearing loss, hypernasality and nasal emission, articulation disorders with hearing loss and oral structures
Trisomy 13
cause: extra copy of chromosome 13
Symptoms: life-endangering severe birth defects, congenital heart defects, brain abnormalities, spina bifida, eye defects, polydactyly
S/L: cleft lip and palate
Turner Syndrome (females)
○ Cause: missing or deformed X-chromosome
○ Symptoms: ovarian abnormality, swelling of the feet, neck and hands, cardiac
defects, webbing of the neck, low posterior hairline
○ S/L: right hemisphere dysfunction, hearing loss, ear infections, language and
articulation disorders, visual, spatial, and attentional problems
Usher Syndrome
-Symptoms: 50% of individuals deaf and blind, night blindness, limited peripheral vision
-S/L: cochlear abnormalities, sensorineural hearing loss, language and articulation disorders consistent with hearing impairment, hypernasality, and nasal emission
Van der Woude Syndrome
S/L: lower lip pits, cleft lip/palate
Velocardiofacial syndrome
most associated with cleft palate
cause: small part of chromosome 22 is missing
symptoms: middle ear infections, learning problems, unique facial characteristics, wide nose, small ears, microcephaly, micrognathia
S/L: feeding problems and failure to thrive
Williams Syndrome
1 of every 20,000
cause: abnormality to chromosome 7 including gene that makes protein elastic
symptoms: elfin face syndrome - small boned and short with long upper lip, wide mouth, full lips, small chin, puffiness around eyes, low IQ's bit can have high intelligence for music, language, interpersonal skills, charming personalities, not afraid of strangers, dental problems, narrowed pulmonary arteries and aorta
S/L: difficulty with conceptual and relational vocabulary, short term memory is relative strength
22q11.2 Deletion Syndrome
-Symptoms: medial displacement of carotid artery/pulsations on the pharyngeal wall
-S/L: hypernasality w/out cleft palate, difficulty with reading and math, and a childhood history of middle ear effusion (otitis media)
VATERR
-Symptoms: vertebral deficits, anal atresia, radial and renal dysplasia
-S/L: tracheo-esophageal fistula
cleft lip
usually upper lip and associated with cleft palate, males at higher risk
cleft palate
hard/soft/both
not always associated with cleft lip, more often unilateral on left, females at higher risk
articulation difficulties with cleft lip/palate
difficulty with unvoiced sounds, pressure consonants, audible or inaudible nasal emission, distortion of vowels
language disorders associated with cleft lip/palate
delayed language development, normal receptive skills, significant language disorders when the clefts are part of a genetic syndrome
laryngeal disorders associated with cleft/lip palate
vocal nodules, hypertrophy and edema of the vocal folds, vocal hoarseness, reduced vocal intensity, reduced pitch variations, and strangled voice, resonance disorders
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