syndromes Flashcards
genotype
genetic makeup of an individual
penetrance
the portion of people with a particular variation of a gene who express an associated trait (phenotype)
phenotype
a list of anomalies associated with a syndrome
incomplete penetrance
an individual who has the mutation (genotype) but lacks a recognizable phenotype–no symptoms
variable expression
degree of severity
dysmorphology
the study of abnormal shape or form
anomaly
any deviation from normal structure (birth defects)
syndrome
a pattern of multiple anomalies that have a common cause
sequence
anomaly occurs due to another anomaly or mechanical factor
What are the main speech path. relevant features of “Van der Woude Syndrome”
- -Cleft lip with or without cleft palate
- -50% have CL and palate
- -paramedian pits/protruberences of lower lip (80% of carriers)
- missing teeth (hypodontia), usually lateral incisior and molars (10%)
Other features of Van der Woude Syndrome?
usually normal development, speech disorder secondary to cleft, maybe submucous cleft, associated with gene deletion.
1:35,000
Which syndromes are associated with cleft palate(that were covered)?
Velo-Cardio-Facial syndrome, pierre robin sequence, stickler syndrome
Features of Velo-Cardio-Facial syndrome
- 1/2000, deletion of gene 22q11
- causes more cleft palate than any other cause (8%)
- -Learning disability in all or almost all
- -55% structural defects of palate
- -up to 90% have VPD
What are the speech and language symptoms associated with VCF?
Severe hypernasality, severe articulation impairment, language impairment, velopharyngeal insufficiency, high pitched voice, hoarseness
Pierre Robin Sequence
1/30,000.
–retrognathia/micrognathia, glossoptosis, velar cleft
