Genetics - Who am I? Flashcards
I am a at a great risk for congenital heart disease, including: ventricular septal defect, patent ductus arterioles, tetralogy of Fallot. I often have duodenal stenosis/atresia, imperforate anus, and Hirshprung’s disease (paralysis of my intestines).
Who am I?
I am…
DOWN SYNDROME
My 3 characteristic impairments are:
-sexual infantilism
-Congenital webbed neck
-Cubitus valgus
Who am I?
I am…
TURNER DISORDER
I have very long limbs and phalanges on my hands and feet; hyperextensibility of my joints, a deformed chest, dislocated lenses of my eyes, and aortic dilation/risk for dissecting aneurysm.
Who am I?
I am…
MARFAN SYNDROME
My craniofacial phenotypic features distinguish me from other genetic disorders - including inner epicanthal folds, upward slanting palpebral fissures, flat facial profile, aplasia/hypoplasia of frontal sinuses, abnormal ear shape, low nasal bridge, shortened palate, maxillary and dental hypoplasia, and irregular tooth placement.
Who am I?
I am…
DOWN SYNDROME
I am a progressive FEMALE (mostly), who developed just fine until 6-18 months of age. Then I hit a plateau and became mildly hypotonic, had a placid personality, and a weak suck/cry. My head got smaller (3-48 months) and then I rapidly lost motor, language and psychosocial functions. I started wringing my hands and stopped using them for anything purposeful. I have gait/truncal ataxia, tremors, apraxia, ASD like behavior, and BRUXISM. I will sometimes hyperventilate or hold my breath to the point I pass out. My GI system is kinda wack - I have GERD and impaired bowl mobility.
I like to scream and cry (18-24months). My doctor says I’m at risk for early osteoporosis.
Who am I?
I am…
RHETT SYNDROME
I am at an increased risk for Leukemia, chronic rhinitis and conjunctivitis, fluid in my middle ear. As I age my risk of thyroid dysfunction, cardiovascular disease, MSK disorders, hearing loss, Alzheimer’s disease, and depression increases.
Who am I?
I am…
DOWN SYNDROME
I am the leading hereditary cause of developmental learning disorders. I have a broad forehead, elongated face, large prominent ears, strabismus, highly arched palate, hyperextensible joints, hand calluses (from self-abuse), an indentation of my chest (pectus excavator), mitral valve prolapse, enlarged testicles, hypotonia, soft-fleshy skin, flat feet, seizures, and severe behavioral issues.
Who am I?
I am…
FRAGILE X SYNDROME
I am at risk to have diastases recti, joint hypermobility, spinal cord compression, linear growth deficits (greatest between 2-24 months) and delayed skeletal maturation rate. Additionally I can have hypoplasia of my middle phalanx of 5th with clinodactyly, wide gap between toes 1/2, simian creases, and hypo plastic pelvic with a shallow acetabular angle.
Who am I?
I am…
DOWN SYNDROME
I result in low birth weight, hypotonia, feeding difficulties/failure to thrive, microcephaly, micrognathia, clumsiness, hyperactivity, mod-to-severe cognitive impairments, and Elfin facial features.
Who am I?
I am…
CRI-DU-CHAT
I can have mild microcephaly, hypotonia, intellectual deficits, developmental delay, early onset Alzheimer’s, small cerebellum and brainstem, a reduction in the number of neurons and dendritic spines, increased latency of response, delayed dissolution of primitive reflexes, and delayed emergency of RR.
Who am I?
I am…
DOWN SYNDROME
Early on I have decreased in-utero activity, failure to thrive, respiratory and feeing difficulties, severe hypotonia, often require a feeding tube as an infant. By age 2: I am excessively eating, maybe to the point of obesity, and my tone improves meaning I can walk. I might or might not have cognitive deficits.
Who am I?
I am…
Prader Willi
I have Elfin facial features, wide mouth with full lips, ADHD, learning disability, mild cognitive impairments, decreased visuospatical skills, early joint laxity with later compensations, and sensory defensiveness. I am musically talented.
Who am I?
I am…
WILLIAMS SYNDROME
I have progressive muscle weakness, deterioration, destruction and regeneration of muscle fibers that is gradually replaced with fibrous/fatty tissue. There are many varieties of myself and they present a little differently.
Who am I?
I am…
MUSCULAR DYSTROPHY
I often suffer from myopia (nearsightedness), nystagmus, strabismus, tear duct blockage, and conductive/sensorineural/or mixed hearing loss.
I also typically have iris speckling.
Who am I?
I am…
DOWN SYNDROME
I am also known as “happy puppet syndrome” because I have a puppet like gait, subtle dysmorphic facial features, and frequent and inappropriate laughter. I can also have ataxia, seizures, sleep disorders and a love of water.
Who am I?
I am…
ANGELMAN SYNDROME
