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31 Cards in this Set
- Front
- Back
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Patau syndrome |
Cleft lip Microcephaly Close set eyes Severe mental retardation Microphthalmos/ anophthalmos Muscle hypotonia Umbilical hernia |
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Klinefelter syndrome |
Tall Disproportional long arms and legs Normal IQ Delayed speech Infertile Gynecomastia Cryptochidism
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Turner syndrome |
Wide spaced nipples Webbed neck Short stature Underdeveloped breasts Lymphedema Infertile, lack menstruation Vaginal dryness Diabetes and hypertension |
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Beta thalassemia |
Minor - mild anemia, no signs or Sx Intermedia - mod anemia, bone complications, splenomegaly Major (Cooley's) - severe anemia, growth retardation, hepatosplenomegaly |
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Down syndrome |
Brachycephaly Ocular hypertelorism Epicanthal folds Small and low set ears Single palmar crease Brushfield spots in iris Upslanted palpebral fissures |
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Duchenne type dystrophinopathy |
Delayed sitting and standing Waddling gait Pseudohypertrpophy of calf muscles Difficulty climbing Mental retardation Extreme calf pain Exercise intolerant |
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Becker |
Left ventricular dilation Congestive heart failure Later onset Not wheelchair dependent |
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Edwards |
Retromicrognathia Clenched fist with overlapping fingers Webbed 2nd and 3rd toes Clubbed feet Prominent occiput Cleft lip or palate Microcephaly |
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Rethore syndrome |
Severe mental retardation Micricephaly Wide set eyes Prominent nose Growth retardation |
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Cri du chat |
Cat like cry Microcephaly Hypotonia Anti mongoloid slant of palpebral fissures Severe mental retardation |
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Wolf hirschhorn |
Prominent forehead Broad beaked nose Wide set eyes Mental retardation |
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Prader willi syndrome |
Hypotonia Diminished reflexes Childhood obesity OCD Developmental delay Almond shaped eyes Thin upper lip Narrow forehead |
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Fraccaro |
Microcephaly Shirt Ocular hypertelorism Flat nasal bridge Bifid uvula |
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Polysomy Y |
Increased growth from early childhood > 3" normal height Low IQ Hyperactivity |
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Trisomy X |
Menstrual irregularity Infertility Tall Small head Speech and language difficulties |
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Huntington |
Progressive dementia Choreic movements Cognitive decline Athetosis Staggering gait |
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Myotonic dystrophy |
Myotonia Balding Cataracts Mental retardation Muscle weakness and wasting |
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Neurofibromatosis |
Cafe au lait apots Iris lisch nodules Learning disabilities Scoliosis Glioma Cutaneous neurofibroma |
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Achondroplasia |
Short limber dwarfism Flat nasal bridge Lumbar lordosis Large head Infancy hypotonia Normal IQ and fertile |
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Osteogenesis imperfecta |
Severe skeletal deformities Fractures with little trauma Mobility impairment Short stature Blue sclera |
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Polycystic kidney disease |
Bilateral renal cysts Hypertension Vascular abnormalities Renal pain and failure Abd wall hernias |
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Cystic fibrosis |
Meconium ileus Failure to thrive Obstructive azoospermia Persistent infection Chronic coughs and sputum production |
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pku |
Severe vomiting Noisy smell Microcephaly Growth retardation Low IQ Epilepsy Less skin and hair pigmentation |
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Mucopolysaccharidosis |
Hydrocephaly Angina Airway obstruction Glaucoma Deafness |
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Wilsons disease |
Recurrent jaundice Hepatitis Chronic liver disease Tremors Chorea Rigid dystonia Depression |
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Incontinentia pigmenti |
Whirled pigments Partial alopecia Hypodontia Mental retardation Ocular problems |
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Rickets |
Growth retardation Delayed teeth eruption Skull deformities Genu varum |
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Rett syndrome |
Developmental arrest and regression Hand washing automatism Seizures Severe handicap Scoliosis |
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Hemophilia |
Hemarthrosis Gingivorrhea Hematuria Crippling deformities |
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Wiskott aldrich |
Mucosal bleeding Petechiae and purpura Eczema Lymphoma Bloody diarrhea Recurrent infections |
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Fragile x |
Large head Long face Prominent forehead and chin Protruding ears Joint laxity Large testes after puberty |
