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Prader Willi Syndrome:

Sx: Mental Retardation, hyperphagia, obesity, hypogonadism, hypotonia

Imprinting- deletion of normally active paternal allele. So both alleles from mom
AngelMan's syndrome

Sx: MR, seizures, ataxia, inappropriate laughter

Imprinting- delte normal active maternal allele, so both alleles from dad.
Sx: muscular dystrophy, wekaness at the pelvis that progresses superiorly. psuedohypertrophy of calves, onset before age 5.

genetics: Xlinked recessive. Deletion of Dystrophin gene (DMD)
Sx: muscular dystrophy that begins in adolescents and is less severe then duchennes

genetics: X linked recessive mutated dystrophin gene
Fragile X syndrome:
Sx: mental retardation (2nd most common cause of genetic MR), Macro-orchidism, long face, long jaw, large everted ears, autism, MVP.
<eXtra large testies, jaw, ears.>

genetic: methylation of FMR1 gene. trinucleotide repeat disorder
Down's syndrome
common sx:

Prenatal labs:

Sx: MR, flat facies, prominent epicanthal fold, simian crease, sandal toe, doudenal atresia, Atrial septal defect, incr risk of ALL and alzheimers

prenatal labs: decr alpha fetoprotein, decr estroil, incr B-hcg, incr inhibin A, incr nuchal translucency
Edwards' syndrome
sx: MR, rocker bottom fet, micrognathia (small jaw), low set ears, clenched hands, VSD/PDA, prominent forhead.

genetic: Trisomy 18
Patau's syndrome
sx: MR, rocker bottom feet, micropthalmia, microcephaly, cleft palate, polydactyly,

genetic: Trisomy 13
Cri-du -chat syndrome
sx: microcephaly, MR, high pitched crying, epicanthal folds, cardiac probs

genetics: microdeletion of chromosome 7
DiGeorge Syndrome
Sx: abnormal face, thymic aplasia= recurrent viral/fungal infections, tetralogy of fallot or aortic arch abnml, hypocalcemia c parathyroid aplasia,

genes: microdeletion of 22q11
Pompe's disease
Sx: glycogen storage d/o with cardiomegaly. hepatomegaly, and systemic findings that lead to early death.

genetics: Autossomal recessive- deficient in enzyme: lysosomal alpha-1 4-glucosidase  
McArdle's disease
Sx: glycogen storage dz- incr glycogen in muscles, cant break it down so get painful mm cramps and myoglobinuria with strenuous exercise

genetic: auto recessive- deficient in skeletal mm glycogen phosphorylase.
Fabry's disease
az. lysosomal storage dz, peripheral neuropathy of hands/feet, angiokeratomas (small red papules), heart and kidney disease

genetic: x linked recessive- deficient in alpha galactosidease A so accumulate ceramide trihexoside
Maple syrup urine disease
sx: severe CNS defects, MR, increased alpha ketoacids in blood, sweet smelling urine

genetics: blocked branched amino acid degradation.
sx: increased homocysteine in urine, MR, osteoporosis, tall stature, kyphosis, atherosclerosis- premature MI and stroke

genetics: cystathionine synthase deficiency or homocysterine methyltransferase deficiency
sx: dark connective tissue, urine turns black on standing, debilitating arthralgias.

genetics: deficiency of homogentisic acid oxidase- autosomal recessive
sx: MR, growth retardation, sz, eczema, musty body odor, excess phenylketones in urine.

genetic: auto recessive, def in phenylalanine hydroxylase or cofactor BH4.

tx: decrease phenylalanine in diet (artificial sweetners), and increase tyrosine.
genetics of G6pD deficiency?

commong oxidizing agents?
X linked recessive.

anti-TB drugs, primaquine, sulfonamides, primaquine
or Infection.
sx: failure to rhrive, jaundice, hepatomegaly, infantile cataracts, MR

genetics:Autosomal recessive
Ornithine transcarbamoylase deficiency
sx: (most common Urea cycle d/o) orotic acid in blood and urine, decreased BUN, sx of hyperammonemia

genetics: X linked recessive
Lesch-Nyhan syndrome
sx: purine salvage d/o- MR, self mutilation, aggresssion, hyperuricemia, gouth choreoatheosis

genetics: X linked recessive, deficiency in HGPRT
Osler weber-Rendu:
SX (Hereditary hemorrhagic telangiectasia)- telangiectasia, recurrent nosebleeds, AVMs

genetic: auto dominant
Von Recklinghausen's disease
sx: Neurofibromatosis type 1- cafe-au-lait spots, neural tumors, lisch nodules in iris of eye, scoliosis, pheochormocytoma, glioma

genetic: auto dominant, chromosome 17
Neurofibromatosis type 2:
sx: bilat acoustic neuroma, juvenile cataract,

genetic: auto dominant on chomosome 22. NF2 gene
Tuberous sclerosis
sx: facial adenoma sebaceum, hypopigmented ash leaf spots, cortical&retinal hemartomas, seizures, MR, renal systs, renal angiomyolipomas, cardiac rhabdomyomas. 

genetics: auto dominant
Von Hippel-Lindau disease
Sx: hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell carcinoma,

genetic: auto dominant- deletion of VHL gene on chromosome 3.
Cystic Fibrosis
Sx: mucus plugs lung/pancrease/liver= recurrent pulmonary infections, pancreatic insufficiency, meconium ileus

genetic: autosomal recessive defect in Cl- channel CFTR
Autosomal recessive mneumonic:
the while lass c tiny kidneys, sphings her bronze musty fibrosed sickle at the glycogen store and then hurls

-albinism, thalassemia, infantile polycystic kidney dz, hemachromatosis, PKU, cystic firbosis, sickle cell, glycogen storage d/o, hurlers dz (mucopolysaccharide d/o)
X linked recessive d/o mneumonic:
in Brutons wisky faber the hunter leashes duchenne and becker then uses his G6 hemi automatic to find white eyed dear

Brutons agammaglobulinemia, wiskott aldrich syndrome, fabry's disease, hunters syndrome (mucopolysach d/o), lesch-Nyhan synd, duchenne and beckers muscular dystropy, G6Pd defeiciency, hemophilia, ocular albinism.
Bruton's agammaglobulinemia
sx: recurrent bacterial infection after 6 months (loss of maternal IgG) bc cant opsinize

genetic: x linked recessive defect in tyrosine kinase
Selective Ig deficiency
sx: sinus and lung infections, milk allergies, and diarrhea. Anaphylaxis if exposed to blood products with IgA. (IgA def most comon)

genetic: ?
Job's syndrome
sx: Hyper IgE syndrome- coarse faceis, cold staph abscesses, retained primary teeth, eczema

Severe combined immunodeficiency
sx: recurrent viral, bacterial, fungal, and protozoal infections b/c both B and T celldef.

genetic: adenosine deaminase deficiency
Ataxia- Telangiectasia
sx: cerebellar atrophy= ataxia, spider angiomas, IgA deficiency

genetic: defect in DNA repair enzyme
Wiskott Aldrich syndrome
sx: thombocytopenic purpura, infections, eczema

genetic: x linked recessive
leukocyte adhesion deficiency
sx: recurrent bacterial infection c absent pus formation. delayed separation of umbilicus

genetic: defect in LFA1 integrin
Chediak-Higaashi syndrome
sx: recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy

genetic: auto recessive
Chronic granulomatous disease
sx: incr susceptibility to catalase pos org- ie staph aureus, e coli, aspergillus.

genetic: lack of NADPH
gauchers disease
sx: lysosomal storage disease. hepatosplenomegaly, aseptic necrosis of femur. genetic: auto recessive-sphingomylinase deficiency, accumulate glucocerebroside
niemann-pick disease
sx: lysosomal storage dz. progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula. foam cells genetic: auto recessive, deficient in sphingomyelinase, accumulate sphingomyelin.
Tay-sachs disease
lysosomal storage dz:progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with union skin, NO hepatosplenomegaly. genetic: auto recessive, deficient in hexosaminidase A, accumulate GM2 ganglioside
hurler\'s syndrome
sx: developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly genetic: auto recessive
hunters syndrome
sx mild hurler +aggresive behavior, no corneal clouding genetic: x linked recessive
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