Syndromes 1
The syndrome that is known for its high-pitched, cat-like cry
What is Cri du Chat syndrome?
The name for this syndrome was chosen because those affected have facial features that which appear similar to the makeup worn by actors in traditional Japanese theater
What is Kabuki syndrome?
The syndrome that affects the autonomic and sensory nervous systems
What is FD?
The syndrome that is diagnosed between 2-5 years old
What is AS?
The type of nipple that is softer and has a smaller pinhole to control flow
What is a premie nipple?
The syndrome with the hallmark triad of physical characteristics (long face, prominent ears, macroorchidism)
What is Fragile X syndrome?
The syndrome where the facial features resemble those of a Greek warrior helmet
What is Wolf-Hirschhorn Syndrome?
The syndrome where a diagnosis is based on complete or partial facial nerve paralysis, limited ocular adduction, and that it must be congenital
What is MBS?
The syndrome with the following key features: ID, epilepsy, growth delay, craniofacial abnormalities
What is WHS?
What are PECS and SGDs?
The syndrome that primarily affects the muscles that control facial expression and movement
What is Moebius syndrome?
The syndrome with the following 4 primary features: behavioral distinctiveness, developmental delays, movement and balance disorders, profound speech impairments
What is Angelman syndrome?
The syndrome where 4 out of the 5 following features have to be met (have to have facial features): atypical facial features, skeletal malformations, dermatoglyphic abnormalities, intellectual disability, short stature
What is Kabuki syndrome?
The syndrome that is the most common genetic cause of life-threatening childhood obesity
What is Prader Willi Syndrome?
The low tech unaided AAC systems
The syndrome with palatal abnormality as a major feature
What is 22q11.2 syndrome?
The syndrome with the following common complaints: GERD, changes in behavior, articulation errors, hearing impairment
What is CdLS?
The syndrome that is diagnosed by the number of CGG codons in the DNA and the methylation of CpG islands using the Southern blot technique
What is FXS?
The syndrome with the following physical characteristics: narrow forehead, almond-shaped eyes, triangular mouth, short stature, puberty delayed or incomplete
What is PWS?
The technical name for modeling used in tandem with an AAC device
What is aided language stimulation?
The syndrome that primarily affects individuals with Ashkenazi Jewish heritage/lineage
What is Familial Dysautonomia?
The syndrome with the following facial features: long face, bulbous nose tip, hooded eyelids, mildly dysplastic ears
What is 22q11.2 deletion syndrome?
The disorder with the following facial features: microcephaly, hypertelorism, epicanthal folds, broad nasal bridge, low set ears, turned down corners of mouth, hypotonia, micrognathia, mandibular retrognathism, anterior open bite, class II malocclusion, hypertonia
What is CdCS?
The syndrome with the following facial features: full lips, wide mouth, puffy cheeks, periorbital fullness, epicanthal folds, low-set ears, sunken nasal bridge, anterior facing nostrils, small and wide spaced teeth, long philtrum, stellate irises
What is WS?
Final Jeopardy Question
Tell me 5 things about your syndrome