Genetic diseases

AD
FGF receptor 3 defect
Dwarfism: short limbs, normal head and trunk

Associated with advanced paternal age

AD
Adult polycystic kidney disease
Bilateral massive enlargement of kidneys
Flank pain, hematuria, HTN, progressive failure

90% AKPD - chromosome 16

Polycystic liver disease, berry aneurysms, mitral valve prolapse

AD
APC gene deletion on chromosome 5
Colon covered in polyps, progressive to colon cancer

AD
Defective or absent LDL-R
Heterozygotes - cholesterol - 300
Homozygotes - 700+

Severe atherosclerotic disease early, tendon xanthomas

MI before age 20

AD
Blood vessel disorder
Telangiectasia, recurrent epistaxis, skin discolorations, AVMs

Osler-Weber-Rendu

AD
Spectrin or ankyrin defect
Hemolytic anemia
High MCHC

Splenectomy curative

AD
CAG repeat on chromosome 4
Depression, progressive dementia, choreiform movements, caudate atrophy
Lower levels of ACh, GABA in brain

Onset between age 20 and 50

AD
Fibrillin mutation
Connective tissue disorder
Tall w/ long extremities
Pectus excavatum
Hyperextensive joints
Arachnodactyly

Cystic medial necrosis of aorta -- aortic incompetence, dissection aneurysms

Floppy mitral valve
Subluxation of lens

AD
I - pancrease, pituitary, parathyroid
II - thyroid, parathyroid, adrenals
III - + mucosal neuromas

II and III are ret gene mutations

AD
chromosome 17
Cafe-au-ait, neural tumors, lisch nodules, scoliosis, optic gliomas, pheo, increased tumor susceptibility

AD
Bilateral acoustic neuroma
Juvenile cataracts
NF2 gene on chromosome 22

AD
Adeoma sebaceum
Ash leaf spots
Cortical and retinal hamartomas
Seizures
MR
Renal cysts
Renal angiomyoplipoms
Cardiac rhabdomyomas
Astrocytomas

Incomplete penetrance, variable presenaiton

AD
Chromosome 3
VHL is tumor suppressor

bilateral renal cell carcinomas
other tumors
hemangioblastomas of retina/cerebellum/medulla

Withouth VHL constituatively express HIF transcription factor--angiogenesis

AR
CFTR on chromosome 7
--chloride channel
Mucus plugged lungs suceptible to infection
Pancreatic insufficiency: fat malabsorption (ADEK)
Meconium ileus
Absence of teh vas

Bruton's agammaglobinemia
Wiskott-Aldrich
Fragile X
G6PD
Ocular albinism
Lesch-Nyan
Duchenne's MD
Hemophilia A and B
Fabry's disease
Hunter's syndrome

X-linked defect affecting methylation and expression of FMR1 gene

CGG repeat disease

Macroorchidism, long face and large jaw, large everted ears, autism

Huntington's
Myotonic dystrophy
Friedreich's axtazia
Fragile X

Trisomy 21
MR, flat facies, prominent epicanthal folds, similar creas
Gap between 1st and 2nd toes
Duodenal atresia
Congenital heart disease
(ASD)
Increased risk of ALL and Alzheimers

low AFP
high beta hCG
low estriol
high inhibin

Trisomy 18
Severe MR, rocker-bottom feet, microganthia, low set ears, clenched hands, prominent occiput, congenital heart disease

Death usually w/in 1 year of birth

Trisomy 14
Seere MR, rocker-bottom feet, micropthalmia, microcephaly, cleft lip/palata, holoprosencephaly, polydactyly
Congenital heart disease

Death in first year

Congenital microdelection of short of 5
Microcephaly, moderate to severe MR, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities

Congential microdeletion on chromosome 7 (including elastin gene)

Elfin facies, MR, well-developed verbal skills, extreme friendliness, CV problems

DiGeorge
Velocardio facial

Variable
Cleft palate, abnormal facies, thymic aplasia, hypocalcemia (parathyroid aplasia)

Aberrent development of 3rd and 4th branchial pouches