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Genetic dis/syn

Genetic disorders and syndromes PCS study

Neurofibromatosis type 1- autosomal condition Chrom 17, produces neirofibriomin. Cortical thinning congenitally. Cafe au lait in axilla and inguinal areas and optic gliomas btwn 0-4 yrs. puberty- skin neurofibromas. Expression varies widely. Less common-CNS, optic, peripheral nv., skeletal tumors 6-
Tuberous Sclerosis Complex (TSC 1, TSC 2) autosomal condition Abn brain, skin, kidney, heart. Most get TSC as a result of new mutation. Expression varies. >80% have sz do, >50% have DD, cognitive imp, PDD, ADHD and aggression. Giant cell astrocytomas assoc w inc ICP & CSF obs, must be removed quickly.
Klinefelter's syndrome (xxy, 47xxy). X linked, recessive. Most common sex synd., assoc w adv maternal age, small testes, dec fertility, gynemastia, inc risk osteoporosis. No apparent ban until puberty. Inc stature, language learning imp., deficits in executive function, no intellectual disab
Down syndrome Most common trisomy with life. Presence of all or part of and extra chrom 21, 90-95% get extra chrom. From mom. Mean maternal age 32. VIP cog (avg IQ 50). Ear infect, sleep apnea, hypothyroid, hematology malignancies. Hirschprungs dz, duadenal atresia, an
Edwards syndrome (trisomy 18) 2nd most common. 100 assoc typical manifestations incl.; CV, GI, urogenital and skeletal sys., small head prominent occiput, microignathia, cleft palate, upturned nose, wide spaced eyes, ptosis, clenched hands, club foot. 90% die in 1st year. Hypo->hypert
Patau syndrome (trisomy 13) Mental and motor challenges. Microcephally, incomplete forebrain, holoprosencephaly, facial def., retinal detachment, nystagmus, cortical blindness, myningomelocele. Deaf, cong heart defect, severe cog imp., polydactyly, cleft palate, prominent heel, miss
Prader-Willi syndrome (chromosome 15 deletion inherited from dad) Deletion of long arm of chrom 15 when inherited from dad. 7 genes are deleted or unexposed. Sister syndrome = angelmans when mothers derived genetic material is affected in the same region. In uterine- dec fetal movmnt, abn., fetal position,
Angelmans (chromosome 15 deletion inherited by mom) Happy puppet syn., severe speech impairment, less imp receptively, ataxia, smooth hands attracted to water. Sympt improve, not degenerative, pale eyes prom chin, smile, flat back of head, hand flapping, sz, microcephally, sens to heat.
Williams syndrome - deletion of lang arm of chrom 7 Occurs from either parent thus recurrence is low, Cv dz due to elastin arteriopathy! transient hypercalcemia, elfin face, pinky turned in, cheerful, ease w strangers. Sing/play instruments, low tone, jt laxity, walk by 2, social,hyper focused on eyes, ADD
Wolf-Hirsch-horn syndrome (deletion of part of chrom 18) Subtle phenotypic features. Diagnosed after genetic exam due to DD. mild-mod growth deficits, hypotonia, mild microcephaly, epicanthal folds, ptosis, micrognathia, down turned mouth corners, variable cognitive impairment. Better motor than language.
Turner syndrome (all or part of one pair of x chrom missing in female) Incredibles designer. Short stature, swelling, wide neck or webbing, broad chest, low hairline, low ears, females sterile, delayed breasts, heart dz, hypothyroid, DM, vision prob, hearing, autoimmune, osteoporosis. Dif w visual-spatial, math and memory.
DMD (sex lInked recessive x) Most common, evident by walking, w/c bound by 10-12, death in 30s. Mutation in dystrophin gene, normally a in brain cells, which could explain the intellectual disabilities seen in 25% of individuals
Hemophilia (recessive sex-linked, X chromosome disorder) Hemo A- factor VIII deficiency most common. Hemo B- factor IX deficiency joint bleeds common. Hemo C- Autosomal d/o. Not x linked. Lack of factor XI. Ex recommended with emphasis on knees elbows and ankles. No aspirin, ibuprophin, naproxen d/t bleed risk
Lesch-Nyhan syndrome Error of purine metabolism. Excessive Uric acid= renal, neuro and rhematologic problems. Gross m delay 3-6 mo of age, hypotonia, chorea, then spasticity. Growth ret., vomiting. Self injurious behavior. Dysarthria and moderate cog imp.
Fragile X syndrome (x linked) Carriers male and F. Can have associated tremor syndrome =cerebellar ataxia,ST mem loss. Periph neuropathy, prox weakness, cog imp. Phenotype=cog dys., autism, ADHD, anxiety, epilepsy, speech &gross m delay,hypotonia, hyper mobility, hand flapping/biting
Rett syndrome (not inherited from either parent, mutation, x linked dominant disorder) Girls. Gray matter. Regression at 6-48mos., then stabilize. Small hands/feet, microcephaly. Non-verbal. 50% don't walk. Not autism. Breathing irreg. scoliosis/osteoporosis. Heart prob. Avoids eye contact
Lissencephaly (neuronal migration disorder) Smooth cortex. Agenesis or malformed corpus callosum, global DD, mild-severe retardation, sz, tone abnormalities.
Agenesis of corpus callosum (ACC) Heterogenous disorder, variable expression, wide spectrum of clinical features and outcomes. Severe cog impairment, sig. Neuro abn. Can have ACC without lissencephaly.
Dandy-walker malformation Fairness of roof of 4th ventricle to form -> expansion into posterior fossa. May have hydrocephalus and shunt, may have agenesis of cerebellar vermis or ACC. Motor DD, but 50% with nml intellect.
Microcephaly Genetic or env causes. Primary microcephaly = no other brain anomalies! usually assoc with trisomy 18 and cru-di-chat syn. May have cog imp and sz.
Dystonia Mystic have genetic cause. Sustained m. contraction, usually at end ranges with a rotational component amusing abnormal posture and poor ability to grade movement.
Mitochondrial disorders If mom has mutation =all offspring. Father =none. Ptosis, progressive paralysis of extraocular m., proximal myopathy, ex intolerance, cardiomyopathy, DM. Hearing loss, optic atrophy, encephalopathy, sz, dementia,migraine,ataxia,spasticity
Autism Multi factorial inheritance. Many genes involved. Idiopathic-majority. 30% have complex autism =dys morphia features, microcephaly,&/or brain malformation. Links to chrom 16, x linked (boys>girls). Dup. Deletions, translocations, inv in 50% of cases.
Epilepsy Genes and chrom locations have been identified. Also have seen assoc btwn peri conceptual frolic acid and prevention of NTD.
Created by: NikellieDPT



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