Misc Disorders I Flashcards
Fragile X
FMR1 X-linked; penetrance in females is 50-60% 200+ CGG trinucleotide repeats (56-200 premutation) LD, ADHD, tall, big ears, ASD Females: LD, POF or POI
Prader Willi Syndrome
Abnl Methylation on chr 15; maternal UPD; good example of paternal imprinting 1/200,000 births Hyperphagia, obesity, almond shaped eyes, hypotonoia, DD
Angelman Syndrome
Abnl Methylation on chr 15; paternal UPD; ; good example of maternal imprinting 1/15,000 births severe DD, “happy” with laughter, like water, seizures, ataxia
Kallmann syndrome
Anosomia, hypogonadism, infertility (males)
Blepharophimosis syndrome
AD; FOXL2 With premature ovarian failure (BPES type I) or without (BPES type II) Alos: blepharophimosis, ptosis, epicanthus inversus, telecanthus, lop ears, ectropion, hypoplasia of superior orbital rims, and hypertelorism
Treacher Collins syndrome
cleft lower lid, lacking zygomatic bones
Miller Dietker syndrome
upslanting palpepral fissures
Cornelia de Lange
Synophrys
Waardenburg syndrome
Hearing loss, wide nasal bridge, white forelock
Wolf-Hirschhorn syndrome
4p- Smooth philtrum
Van der Woude syndrome
Lip pits, cleft palate
Optiz Syndrome
hypertelorism, ankyglossia
Pallister syndrome
Postaxial polydactyly
Rubinstein-Taybi syndrome
Broad thumbs, behavioral issues
Williams syndrome
chr 7 microdeletion cognitive impairments, microcphaly, elfinlike facial features, short stature, extreme friendliness, stellate iris
CHARGE syndrome
CHD7 coloboma, choanal atresia, ear anomalies (triangular conchae, wide, cupped), retarded growth, dev delay, cardiac defects, genital abnormalities square face, broad nasal root, wide neck, sloping shoulders, facial asymmetry and palsy
hereditary hemochromatosis
HFE; AR Overabsorption of iron leads to organ damage More common in males; good example of sex-limited inheritance
Duchenne muscular dystrophy
X-linked good example of mosaicism in female carriers
Hemophilia A
X-linked recessive
hypophosphatemic rickets
X-linked dominant
Rett syndrome
MECP2; X-linked dominant Lethal in hemizygous males
hereditary paragangliomas
AD tumors in ganglia, pheochromocytoma example of imprinting - only affected if inherited from father
retinitis pigmentosa
ORP1; AD, AR, or x-linked depending on mutation (allelic/locus heterogeneity)
Retinoblastoma
AD; RB1 1 in 13,500-20,000 Leukoria, strabismus Two-hit hypothesis example because age of onset is infancy Subtypes: 13q deletion syndrome, low penetrant RB 40% of cases are hereditary; penetrance is high Clinical dx criteria: Bilateral or trilateral; OR Unilateral with fam hx
