Diagnostic Methods Genetic Syndromes

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ggarriott
ID:
92110
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Diagnostic Methods Genetic Syndromes
Updated:
2011-06-26 21:08:06
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Diagnostic Methods Genetic Syndromes
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Diagnostic Methods Genetic Syndromes
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  1. Alport
    • H: Sensorineural
    • C:
    • S-L:
    • D:
    • O: Dysphagia
  2. Angelman (Happy Puppet)
    • H:
    • C:
    • S-L: Limited or Nonverbal
    • D: Severe Intellectual Disability
    • O: Seizures / Ataxia / Feeding-Dysphagia
  3. Apert
    • H: Conductive
    • C: Palate
    • S-L: Artic / Hyponasal / Hoarse
    • D: Learning or Intellectual Disability
    • O: Choanal Stenosis / Atresia / Upper Airway Obstruction
  4. Cat Eye
    • H: Conductive possible
    • C: Palate occasional
    • S-L: Artic possible / Hypernasal
    • D: Cognitive Impairment
    • O: Ear & Heart Malformation
  5. CHARGE
    • H: Sensorineural & Mixed most often / Conductive
    • C: Palate occasional
    • S-L: Hyponasal--Cul-de-sac resonance / Hypernasal--(cleft) / Artic (paresis) / Hoarse
    • D: Cognitive Impairment
    • O: Unilateral Facial Paresis / Feeding Disorders
  6. Cornelia de Lange
    • H: Conductive or Sensorineural
    • C: Palate
    • S-L: Delayed or Nonverbal / Hypernasal / Low Pitch / Hoarse / Neurological Artic disorders
    • D: Cognitive Impairment
    • O: Seizures / Hypertonia / Lack of Expression /Heart Malformation
  7. Cru-di-Chat
    • H: Conductive 2 (chronic OM)
    • C: Palate Occasional
    • S-L: Absent or Severely Delayed Development / High Pitch Cry & Voice / Hypernasal if cleft
    • D:
    • O: Ear Tags / Failure to Thrive--Feeding Difficulty
  8. Crouzon
    • H: Conductive
    • C: Lip/Palate (not common)
    • S-L: Hyponasal / Artic impairment possible
    • D:
    • O: Class III Malocclusion possible / Midface Deficiency
  9. Fabry
    • H: High-frequency Sensorineural
    • C:
    • S-L: Delay possible / Artic occasional / Resonance abnormal / Hoarse
    • D: Cognitive Impairment occasional
    • O: Headaches / Seizures / Hemiplegia occasional
  10. Fetal Alcohol
    • H: OM / Sensorineural / Conductive possible
    • C: Palate &/or Lip / VPI
    • S-L: Artic impairment/ Dyspraxia, Hypernasal 2 (cleft palate/VPI)
    • D: Cognitve Impairment
    • O: Low Birthweight / Microencephaly / Poor Motor / CAPD
  11. Fragile X
    • H:
    • C:
    • S-L: Stuttering & Cluttering
    • D: Cognitive Impairment
    • O: X Linked Mental Retardation / Expressive Language may be absent / Girls usually milder
  12. Friedreich Ataxia
    • H:
    • C:
    • S-L:
    • D:
    • O: Diabetes occasional / Ataxia onset @ 10 yrs of age
  13. Landau Kleffner (Acquired Epileptic Aphasia)
    • H: Inattentive to Auditory Stimulus (may appear to have hearing loss)
    • C:
    • S-L: Normal until 3-7 yrs then Significant & Rapid Language loss / Monotone / Hypernasal / Final Consonant Deletions / Metathesis
    • D:
    • O: Seizures / Unexplained Language loss after 3-7 years
  14. Neurofibromatosis
    Type 1: Von Recklinghaus
    Type 2: Bilateral Acoustic Neurofibromatosis
    • H: Type 1--Normal / Type 2--Hearing Loss
    • C:
    • S-L: Dysarthria or Dyspraxia (occasional-mild) / Hypernasal / Hoarse
    • D: Learning Disability (Common) / Intellectual Disability (Uncommon)
    • O: Facial assymetry occasional / Skeletal anomalies (Type 1 is 10x more likely)
  15. Noonan
    • H: Sensorineural &/or Conductive occasional
    • C: Submucous Palate occasional
    • S-L: Artic 2 (malocclusion) / Hypernasality 2 (cleft) / Hoarseness occasional
    • D: Cognitive Impairment
    • O: Maxillary Vertical Excess / Webbed Neck / Vertebral anomalies
  16. Sotos
    • H:
    • C:
    • S-L: Distortion (Dental spacing) / Delayed Onset 2 (Hypotonia & Developmental Delay) / Low Pitch for age
    • D: Cognitive impairment
    • O: High Birthweight / Hypotonia / Tall adult height / Behavioral disturbances
  17. Stickler
    • H: High Frequency Sensorineural occasional / Conductive (clefting)
    • C: Palate
    • S-L: Artic Disortion / Compensatory Artic / Hypernasal 2 (Cleft & VPI) / Hyponasal 2 (Small Nasal Capsule & Nasopharynx)
    • D:
    • O: Maxillary deficiency / Myopia / VPI / Small Nasal Capsule & Nasopharynx
  18. Sturge-Weber
    • H:
    • C:
    • S-L: Artic 2 (Malocclusion) / Delayed Onset
    • D: Cognitive Impairment
    • O: Seizures / Malocclusion / Hemangioma
  19. Tourette's
    • H:
    • C:
    • S-L: Verbal Tics (Barking, Profanity, Echolalia, & Palilalia)
    • D: Learning Disability
    • O: ADHD/ADD / OCD / Motor Tics
  20. Treacher Collins
    • H: Conductive (varying degree) / Sensorineural occasional
    • C: Malar Clefts / Palate / Lip (uncommon)
    • S-L: Artic (Severe Tongue Backing) / Hyponasal / Mixed Resonance w/ VPI (combined w/ Nasal Obstruction)
    • D:
    • O: Micrognathia / Malocclusion / Ossicular Malformation / Airway Obstruction
  21. Waardenburg
    • H: Sensorineural (mild-severe)
    • C: Lip &/or Palate occasional
    • S-L: Compensatory Artic w/ cleft (may be affected by hearing loss) / Hypernasal w/ cleft
    • D:
    • O: Depigmentation / Chromia Iridium (different colored eyes)
  22. Williams
    • H: Hyperacusis
    • C:
    • S-L: Echolalia / Overtalkativeness / Hoarseness possible
    • D: Cognitive Impairment
    • O: Hypertension / Elfin Facial features / Heart anomalies / Mouth large / Lips thick / Language atypically Sophisticated / Friendly "Cocktail Party" manner of Conversation

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