El Final Flashcards
Monosomy X
Turner Syndrome
Female lacks an X chromosome
Chromosomal syndrome
Trisomy 21 (Down Syndrome)
1/700 births (varies with maternal age) Most common cause of ID 20% of all ID Associated w/ hrt & gi atresias defects At risk for hypothyroidism, leukemia, Alzeheimer's IQ 25-50 Chromosomal syndrome
Klinefelter Syndrome
Extra X in males
Chromosomal syndrome
Prader-Willi Syndrome
Deletion of paternal 15q
Contiguous Gene Deletion Syndrome
Angelman syndrome
deletion of maternal 15q
Contiguous gene deletion
William syndrome
Deletion of 7q
contiguous gene deletion
Single gene syndromes
Sickle cell anemia Marfan syndrome Duchenne muscular dystrophy Archondroplasia Cystic fibrosis
VACTERL association
Vertebral anomalies Anal atresia Cardiac defects Tracheo Esophageal fistula Renal defects Limb defects
CHARGE association
Coloboma of the eye Heart defect Atresia choanae Retarded growth/development Genital hypoplasia Ear anomalies
Chromosomal syndromes
Trisomy 21
Monosomy X
Klinefelter Syndrome
Trisomy 18 (Edwards Syndrome)
Contiguous Gene Deletion
Prader-Willi Syndrome
Angelman Syndrome
William Syndrome
Cri-du-chat syndrome
Low birth weight; hypotonia, feeding problems/failure to thrive (FTT); low set ears; microcephaly; clumsiness and hyperactivity
Prader-Willi syndrome
Hypotonia, global developmental delay; short stature and small hands/feet; respiratory and feeding problems; obesity, MR, scoliosis
Angelman syndrome
Ataxia with jerky movements; seizures, severe learning disabilities, inappropriate laughter, wide smiling mouth
William Syndrome
CV disease; elfin-like face; short stature; strong language skills but problems w/ visuospatial skills; GI problems; hypotonia, potential learning difficulties
Single gene disorders
Neurofribromatosis type 1 (NF1) Tuberous Sclerosis Achondroplasia Marian Syndrome Osteogenesis Imperfecta (OI)
Neurofibromatosis type 1 (NF1)
Aka Von recklinghausens’ disease
Cafe au lait spots (dark brown spots) Crowe's signs (axillary freckling) Neurofibromas Bone problems, short stature, large head Intellectual problems, 50% have LD
Tuberous Sclerosis
1:6K-1:9K
Autosomal dominant with high spontaneous rate
Angiofibromas, hypopigmented macules, MR, seizures, and psychiatric problems
Achondroplasia
Most common disproportionate short stature disorder 1:25K Autosomal dominant, rare mutation 4'-4'6" large heads, short limbs IQ is norm, problems with fine motor Bow legs Spinal stenosis, can be obese No sports
Marfan syndrome
Autosomal dominant
Causes heart, skeletal & eye problems
Tall and thin, long limbs
Chest wall deformities, flat feet, curved spine, loose joints
Osteogenesis Imperfecta (OI)
Fragile bone secondary to abnormal Type 2 collagen
Frctrs, short stature and bony deformities
Bluish tinge to sclera, hearing loss
IQ is norm; motor delays
Phenylketonuria (PKU)
1:35K births
High phenylalanine in blood
More common in Caucasian
IQ <40, eczema, hypopigmentatiom, autism, seizures; low protein diets, near vegetarian, low one diet for life
Galactosemia
1:65K births
Defect in breakdown of sugar in milk
Results in high galactose in blood
Signs; vomiting, diarrhea, liver disease w/ jaundice; lead to liver disease, cataracts, dev delays, FTT, growth retardation, cognitive deficits and death. Hard to fix
X-linked disorders
Duchenne muscular dystrophy
Lesch-Nyham syndrome
Duchenne muscular dystrophy
Most common X-linked 1:3.5K live male births Mutation of dystrophin gene Proximal muscle weakness From late teens to late 20s
Lesch-Nyhan syndrome
Involves purine metabolism
Gross motor delay btwn 3-6 mos with initial hypotonia, but later ataxia, athetosis and spasticity; growth retardation,self-injurious behavior, dysarthria, moderate cognitive impairment
X-Linked Dominant
Fragile X syndrome
Rett syndrome
Fragile X syndrome
Most common inherited cause of ID 1:2K male live births Characteristics: long face and body ADD or autistic behavior Double jointedness Flat feet Ear infections Circulatory system IQ 30-55 Females carriers have Ed barriers Norm lifespan
fragile x-associated tremor/ataxia syndrome (FXTAS)
Severe tremor, difficulty w/ walking and balance, appears to specifically affect some older permutation carriers, generally grandfathers of children with fragile X.
50-80yo
Intention tremors, balance problems, numbness, mood instability, short-term memory
Rett Syndrome
Progressive neuro disorder in females
They are norm up to 12-18 mos
Regress in dev skills; eventual microcephaly, seizures; loss hand skills; gait trunk ataxia; tremors, bruxism (teeth grinding), fits of screening and crying) severe language and Cogn impairment
