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83 Cards in this Set
- Front
- Back
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Gorlin Syndrome (NBCC) |
-predisposition to cancer -PTCH, auto dom -many BCCs, palm and plantar pits, jaw cysts -multisytstemic |
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Xerodoma Pigmentosa |
XPD and many others burning, frreckling, aging high skin cancer risk Cockayne and TTD (same gene) |
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Familial Cutaneous Malignant Melanoma |
CDKN2A Rule of three |
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PTEN Hamartoma Syndrome |
hamartomatous lesions, cancer Cowden BBR syndrome Proteus like syndromes |
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Ichtyosis Vulgaris |
common ichytosis FLG, auto dom - profillagrin protein dry skin, white scale, rough skin (disorder of cornification/keratinization) risk for allergies b/c no protective barrier |
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steroid sulfatase deficiency |
common ichtyosis x-linked recessive, STS gene early onset, dark scaly, neck and limbs |
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keratinopathic ichtyosis |
mutation in keratin genes (protein of epidermis) over 22 disorders, based on which gene and expression patter -epidermolytic ichtyosis: auto dom, 50% de novo hotspots, blistering, later thickening -pachyonychia congenita: nail issues |
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Auto Recessive Congenital Ichtyosis (ARCI) |
Collodian baby- shiny membrane cracks and peesl off, then specific ichtyosis developes: -lamellar: TGM1, large dark scale -CIE: bright red skin -Sjogren-Larsson: itchy, dev delay, seizures, dots on retina -Harlequin: ABCA12, thick scales that crack, |
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Erythrokeratodermia Variablis |
auto dom, connexin mutation thick skin, red patches |
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Keratitis-Ichthyosis-Deafness Syndrome |
auto dom, connexin genes (GJB2) corneal issues, deafness, ichtyosis |
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Clouston Syndrome |
ectodermal dysplasia auto dom, connexin gene thickening, nail dystrophy, balding ED1200 treatment tested |
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Hypohydrotic ED |
x-linked, EDA1 gene, WNT10A fine hair, no sweating, ED1200 treatment tried |
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EEC |
TP63, auto dom electrodactylity-ectodermdys-clefting |
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Incontinentia Pigmenti |
neurocutaneous disorder x-linked dominant (lethal in males), NEMO blisters at birth, skin atrophy, discoloration ocular, dental and CNS - seizures, microcephaly, MR |
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focal dermal hypoplasia (Goltz) |
x-linked dom, male lethal or mosaic PORCN gene skin atrophy, hair, tooth, nail, eye |
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Epidermolysis Bullosa |
defined by skin level, scarring vs. nonscarring -simplex: basal layer, blisters -junctional: lamina lucida (LL), blister at birth -hemidesmosomal: basal/LL interface -dystrophic: dermis layer, COLA7A1 |
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Heterogeneity |
same phenotype, different gene
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Pleiotropy |
many phenotypes, same gene |
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sequence |
pattern of multiple anomalies resulting from a single primary malformation |
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disruption |
morphologic defect resulting from extrinsic breakdown or interference with development (drugs, mechanical) |
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deformation |
abnormal form, shape or position of body parts caused by mechanical forces |
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dysplasia |
abnormal organization of cells into tissue |
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22q11 Deletion |
includes DiGeorge sequence characteristic facies, cleft, cardiac, hypotonia |
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terminal transverse defects |
absense of part of limb sporadic, vasucular cause |
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radial defects |
thumb side VATER, Holt-Oram, Fanconi more common than ulnar (DeLange, FFU) |
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phocomelia |
hands attached close to thum thalidomide |
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split hand/split foot syndrome |
autosomal dom, 6q and 7q prevalent, variable, missing central digits (ectrodactyly, syndactyly) |
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Amniotic banding |
dependent on timing amnion rupture --> fibrous bands --> entangling, disruption |
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brachydactyly |
shortened digits |
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syndactyly |
fusion of fingers and toes can be isolated autosomal dom or syndromic |
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polydactyly |
preaxial and post axial usually isolated auto dom |
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connexin deafness |
locus: DFNB1 (recessive) - most common rec. genes: GJB2 and GJB6 proteins: connexin 26 and 30 (gap junction) more than 100 mutations usually profound to severe deafness |
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Aminoglycoside ototoxicity |
mitochondrial mutation + exposure to aminoglycoside -- > rapid hearling loss |
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Usher syndrome
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autosomal recessive, 3 types (1 most severe) retinitis pigmentosa abnormal stereocilia |
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Jervell and Lange-Nielson syndrome |
congenital hearing loss long QT interval - fainting and death recessive, KCNQ1 amd KCNE1(K+ channels) |
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Pendred Syndrome |
recessive, SLC26A4 (ion transfer) hearing loss goiter, hypothyroidism, enlarged vestibular acqueduct |
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Waardenberg syndrome |
4 types, different genes cause eye hair skin pigment defects limb defects |
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Friedrich's Ataxia |
type of spinocerebellar ataxia autosomal recessive, GAA repeat in Frataxin progressive ataxia, multiple organs involved |
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spinocerebellar ataxias (SCA) |
-most auto dom, many types caused by repeats degeneration of spinal cord and cerebellum |
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ataxia telangiectasia |
progressive cerebellar ataxia autosomal recessive, ATM gene dilated vessels |
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Neurofibromatosis 1 |
neurocutaneous disorder auto dom, NF gene, variable, high de novo rate cafe au lait spots, tumors, neurofibromas, lisch nodules (iris) complications: dev delay, seizures, hypertension |
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Neurofibromatosis 2 |
neurocutaneous disorder auto dom, Merlin gene, variable, high de novo vestibular schwannoma, meningiona, glioma |
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tuberous sclerosis |
neurocutaneous disorder auto dom, TSC1 (hamartin) and 2(tuberin), variable, high de novo (more sporadic) facial angiofibroma, other skin findings seizures, spasms, autism |
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Hypomelanosis of Ito |
neurological disorder w. pigment abnormality seizures, MR chromosomal mosaicism (lines of Blashko) |
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adrenoleukodystrophy (ALD) |
leukodystrophy = degeneration of white matter loss of myelinated sheath, accumulate fatty acid X linked recessive Types: classic childhood, neuromuscular form, milder adult-onset, symptomatic female -detect with MRI -neonatal ALD: dif gene and disorder, progressive MR, seizures, facial features, degeneration |
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Pelizeaus Merzbacher Disease (PMD) |
spectrum of disorders, PLP gene degenerative CNS: slow growth, tremor, motor issues, |
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peroxisomal disorders |
reduced presence of peroxisomes --> can't break down toxic substances in cells -Zellweger syndrome: fatal in infancy -neonatal ALD -rhizomelic chondrodysplasia: bone & cartilege -infantile refsum: RP, HL, MR |
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mitochondrial disorders |
-constellation or neurologic, neuromuscular, visceral and sensory symptoms, accelerated aging OXPHOS dysfunction affects all systems can be from nuclear genes or mt genes -mt genome: homo vs. heteroplasmy (bottleneck), maternal inheritance, high mutation rate -diagnosis: biochemical, neuroimaging, muscle biopsy, molecular -examples: MNGIE, MELAS (stroke, seizures), MERRF (seizures, ataxia) |
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PKAN |
neurodegenerative disorder PANK2 gene, auto rec brain iron accumulation --> dystonia, rigidity |
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NCLS - neuronal ceroid lipofuscinosis |
group of neurdegenerative disorders autosomal recessiver, 10 known genes most common encephalopothy (mental status) seizures, degeneration, vision loss main groups: infantile, late infantile, juvenile (Batten), adult most are progressive and fatal |
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Aicardi Syndrome |
brain malformation disorder x-linked, gene unknown agenesis of corpus callosum, infantile spasms, ocular abnormality |
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Miller Diecker syndrome |
neuronal migration disorder lissencephaly (smooth cortex), seizure, MR, |
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schizencephaly |
neuronal migration disorder cleft/cavity in the brain seizures, hemiparesis, dev delay multiple causes |
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tyrosine hydroxylase deficiency |
neurotransmitter disorder autosomal recessive, TH gene eye crossing, parkinson sxs, tremor |
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Epileptic disorders |
Dravet: febrile seizures chromosomal: wolf-hirschorn, downs, angelman |
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Huntington Disease |
CAG repeat in HD gene, auto dom cognitive impairment, movements, depression |
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Developmental Disability |
IQ below 70 genetic causes: Down syndrome, fragile X, Rett, Williams teratogenic, congenital, and birth injury cause |
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Rett Syndrome |
X-linked neurodegenerative, MECP2 gene -protein that binds to methylated DNA regression, hand movement, autistic, ataxia missing dendritic spines --> synapse problems decreased brain weight, reduced neuron size |
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Fragile X |
X-linked, CGG repeat in FMR1 w anticipation -size only increases in mothers facial features, macrocephaly, hypotonia, prominant ears, MR, autistic -FXTAS: fragile X associated ataxia, Parkinson-like |
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Auto Dom Polycystic kidney disease (ADPKD) |
PKD1 and PKD2 liver cysts vascular abnormalities (aneurysms) |
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Auto Rec Polycystic kidney disease (ARPKD) |
PKHD1 presents in infancy, more severe born with enlarged kidneys |
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Diseases of primary cilia |
ARPKD, ADPKD, Bardet Biedl Nephronophthsis Joubert syndrome Meckel-Gruber syndrome Oral facial digital syndrome |
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congenital anomolies of kidney and urinary tract (CAKUT) |
Kidney: renal agenesis, hypoplasia, or dysplasia ureter: obstructive, vesicouretal reflux bladder and urethra: posterior valves -isolated and syndromic RET and GDNF mutations |
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Renal coloboma syndrome (RCS) |
auto dom, PAX2 transcription factor for GDNF congenital kidney anomolies, coloboma, hearig loss |
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branchiootorenal spectrum disorders |
kidneys, brachial arteries, deafness EYA1 |
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Glomerular filtration barrier (GFB) defects |
albuminuria and proteinuria - leakig of protein out of the blood and into urine -NPHS2 syndrome: recessive, podocin protein, sclerosis -WT1 gene: isolated nephrotic syndrome, Denys-Drasch, frasier, WAGR - dif mutations in same gene |
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Alport syndrome |
defects in type IV collagen X-linked recessive renal disease: hematuria and proteinuria hearing loss |
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Fabry disease |
X-linked a-galactosidase deficiency -accumulatio of lipids progressive renal injury CNS issues, neuropathic pain |
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renal tubular acidosis (RTA) |
acid base balance issues -renal fanconi syndrome: defective reabsorption of all small molecules |
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vaginal atresia |
absence of part of vagina -of distal vagina -Mullerian aplasia: missing internal part of vagina and part of uterus, due to failed fusion of Mullerian ducts (MRKH syndrome includse agensis of the uterus, cervix and upper vagina) -renal anomolies also seen |
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transverse vaginal septa |
failed fusion of Mullerian duct derivatives, can result in build up of fluid (hydrocolpos) -McKusick Kaufman sydrome - MKKS gene |
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Longitudinal vaginal septum
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persisting epithelium -edwards-gale syndrome, johanson-blizzard, -hand-foot-genital syndrome (HOXA13) is the most prominant multiple malformation syndrome associated with incomplete Mullerian fusion |
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congenital uterine anomolies |
didelphys: 2 cervices, vaginal septa
bicornuate: partial nonfusion septate: partial septum, reproductive complications unicornuate: only one side, renal anomolies |
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fetal hydrops |
-accumulation of fluid in fetal tissues -immune and non-immune (some genetic) -genetic: chromosomal disorders, hemoglobinopathies, skeltal dysplasias, metabolic |
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maternal PKU |
-fetal effects: microcephaly, heart disease, poor growth, refluc, dysmorphic facial, dev delay -dietary management |
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LCHAD (long chain fatty acid deficiency) |
-in fetus, causes fatty liver in the mother
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primary ovarian insufficiency |
-premature menopause -low hormone levels -fragile x carriers, Turner, galactosemia |
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genetic disorders with susceptibility to HPV |
-WHIM syndrome: gential warts, cervical dysplasia, autodom CXCR4 -SCID -Fanconi anemia |
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gynecologic cancer issues |
-HBOC - prophylactic BSO -Lynch syndrome - endometrial and ovarian -Cowden - endometrial -PJS - STK11, ovarian -Li-Fraumeni - TP53, endometrial and ovarian -HLRCC - uterine |
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Marfan Syndrome |
AD, FBN1 gene ocular - myopia, lens dislocation cardiovascular- aortic aneurysm, mitral prolapse skeletal - joint laxity, arachnodactyly, rib overgrowth, scoliosis, pes planus, pectus deformity craniofacial |
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Loeys-Dietz syndrome |
AD, TGFBR1 and 2, SMAD3, TGFB2 cardio: aortic aneurysm, arterial tortuosity skeletal: joint laxity, arachnodactyly, club foot, cervical instability craniofacial: hypotelorism, malar hypoplasia, craniosynostosis skin: soft, velvety, hernias, |
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Ehlers-Danlos Syndrome |
classical: soft/doughy, hyperelasticity, fragile skin, scars, pseudotumor, COL3A1 hypermobility: joint laxity, instability, pain, aortic root disection, unknown genetic cause vascular: joint laxity, scars, fragile, internal dissection/rupture, COL5A1/2 |
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Assessing joint laxity |
range of motion, hyperextensio, instability, varus/vagus BEighton scale |
