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43 Cards in this Set
- Front
- Back
albinism, white forelock of hair, ocular albinisim, different colored eyes (heterochromia), and/or deafness autosomal dominant |
Waardenburg Syndrome
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early cranial suture closure + bilateral syndactyly (fused digits)
autosomal dominant |
Apert Syndrome |
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webbed neck, low-set ears, short stature, hypertelorism, pulmonic stenosis, HOCM, pectus excavatum autosomal dominant |
Noonan Syndrome
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short, macrocephaly, mild hypotonia, short arms/legs, relatively normal torso, genu varum deformity (bow-legged), normal IQ
*risk of death from compression of the cervicomedullary junction autosomal dominant in 15-20% (rest are new mutations) |
Achondroplasia
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hamartoma GI polyps (can lead to obstruction or intussusception so should be removed), increased lifetime risk of cancer, hyperpigmented macules on the lips or oral mucosa,
positive family history autosomal dominant |
Peutz-Jeghers Syndrome (aka hereditary intestinal polyposis) |
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premalignant polyps throughout the intestines, also may have supernumerary teeth and tumors in other parts of the body (especially benign bone tumors = osteomas)
autosomal dominant |
Gardner Syndrome |
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infantile spasms or epilepsy with missing corpus callosum, mental retardation
x-linked dominant |
Aicardi Syndrome |
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males have renal disease (starts as hematuria an progresses to ESRD, bilateral sensorineural hearing loss, eye/vision problems x-linked dominant |
Alport Syndrome |
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rounded face, almond-shaped eyes with up slanting palpebral fissures, flat nasal bridge, macroglossia, single transverse palmar crease ("Simian crease"), hypotonia, wide space b/w 1st and 2nd toes Brushfield spots (speckled whitish rings located in the iris) |
Trisomy 21, Downs Syndrome |
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What problems are children with trisomy 21 at risk for?
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AV canal defects,obstructive sleep apnea w/ R heart failure, atlantoaxial instabilityduodenal atresia, leukemia,Hirschprung's disease,mental retardation
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most common form of Trisomy 21?
other possibilities? *risk of future pregnancies for each |
non-disjunction of chromosome 21
(mother's age-related risk + 1%) - most common translocation in which the parent is carrying a 21 attached to 21 (100% risk) any other translocations (<15% risk) |
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Rocker bottom feet, clenched fists,
hypoplastic nails,horseshoe kidneys, micrognathia, prominent occiput, pectus excavatum |
Edward's syndrome (trisomy 18), most die in utero or by 1 year
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Cleft lip/palate,
holoprosencephaly/midline defects, punched out scalp lesions (aplasia cutis), cystic kidneys, omphalocele *can also have rocker bottom feet |
Patau syndrome (trisomy 13), clinically severe, most die by 6 months
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Webbed neck/cystichygroma,puffy hands/feet (pedal edema),coarctation,short stature,horseshoe kidney, no periods/infertile
(hypergonadotropic-hypogonadism) *cubitus valgus deformity of the elbow and hyperconvex fingernails |
Turner syndrome (45, X). This is the one of the only chromosomal abnormalities not related to maternal age.
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Tall stature, small testes, gynecomastia, learning/behavioral problems/socially awkward
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Klinefelter (47, XXY)
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-tall/thin, scoliosis, pectus deformities, long fingers
-superior subluxation of the lens -mitral valve prolapse, aortic dissection -high arched palate/speech disorder (no cognitive defects) |
Marfan's Syndrome
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joint hypermobility, loose skin, easy bruising, poor wound healing, "cigarette paper" scars, possible MVP and aortic dissection
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Ehlers Danlos Syndrome
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dwarfism, clinodactlyly, small chin and triangular face, hypospadias , hemihypertrophy
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Russell-Silver Syndrome |
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poor urine production in utero (oligohydramnios), pulmonary hypoplasia, club feet, flattened blade-like hands, glove-like loose-fitting skin, yellow nodules |
Potters Syndrome |
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VATER/VACTERL
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Vertebral abnormality
Anal atresia/imperforate anus Cardiac (VSD) TE fisulta Esophageal atresia Renal anomalies/Radial hypoplasia Limb anomalies |
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weak abdominal muscles, cryptoorchidism, urinary tract anomalies (vesicoureteral reflux, posterior urethral valves, renal dysplasia), often results in hydronephrosis, oligohydramnios, and pulmonary hypoplasia, poor prognosis |
Prune Belly Syndrome |
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microdeletion of chromosome 22 cardiac defects/conotruncal (truncus arteriosus, interrupted aortic arch, tetralogy of fallot),absent of hypoplastic thymus (T cell deficit), hypocalcemia some with veloardiofacial syndrome (cleft uvula or palate + cardiac anomalies + craniofacial features) |
DiGeorge
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What study looks for microdeletion syndromes?
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FISH
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"cocktail party" personality, love music!,
elfin face, low and flat nasal bridge, upturned nose, smooth philtrum, wide-spaced teeth, cardiac problems (SUPRAvalvular aortic stenosis, peripheral pulmonic stenosis, hypercalcemia) |
Williams Syndrome
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absent or hypoplastic radius and thumb, triple-jointed thumb, ASD or VSD
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Holt Oram Syndrome
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high-pitched shrill cry, hypertelorism, microcephaly, developmental delay, high palate and possibly a VSD
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Cri-du-chat Syndrome (deletion of short arm of chromosome 5, aka 5p- or 5p deletion)
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early suture closure (craniosynostosis) with prominent forehead, proptosis, cleft lip/palate *NO syndactyly! |
Crouzon Syndrome (aka Craniofacial dysostosis) |
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Trinucleotide repeat expansion (size of repeat correlates with severity and age of onset)
mental retardation, social awkwardness, long face with prominent jaw, large ears, large testicles *most common inherited form of MR (most common cause is Downs) |
Fragile X Syndrome
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What diseases can result from 15q11-13 chromosome deletion?
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Prader Willi syndrome-from the dad's side
Angelman syndrome-from the mom's side |
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happy, "angelic", laugh frequently, severe MR, "puppet gait" - ataxic, unstable, jerky
absence or dysfunction of 15q11-13 from MATERNAL copy (diagnosed with FISH) |
Angelman Syndrome
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hypotonia (floppy baby with poor feeding/suck), mild MR, almond-shaped eyes, small hands, big appetite, obesity, small testicles/penis in boys
absence or dysfunction of 15q11-13 from PATERNAL copy (diagnosed with FISH) |
Prader-Willi Syndrome
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retinitis pigmentosa, obesity, polydactyly, hypogonadism, endocrine problems (nephrogenic DI, DM) |
Laurence Moon Biedl Syndrome |
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Macroglossia, macrosomia (large body), midline abd wall defects (omphalocele, umbilical hernia), hemihypertrophy, increased risk for malignancies such as Wilms Tumor, nephromegaly (large palpable kidneys)
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Beckwith-Wiedemann Syndrome
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AV fistulae causing overgrowth and hemihypertophy, port wine stains, congestive heart failure |
Klippel-Trenaunay Syndrome |
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glossoptosis (tongue stick out due to small chin), micrognathia, cleft palate, upper airway obstruction *many conditions are associated with this disorder, most notably Stickler syndrome and chromosome 22q11 deletion syndrome. |
Pierre-Robin sequence |
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CHARGE syndrome
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C-coloboma
H-heart defects A-choanal Atresia R-retardation of growth G-GU anomalies (hypospadias, undescended testes) E-ear anomalies or deafness |
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regression of developmental milestones and deceleration of growth, microcephaly after about 1 year, breath-holding spells, seizures X-linked but affects girls more |
Rett Syndrome |
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craniofacial deformities, such as absent cheekbones, downward-slanting eyes, micrognathia, cleft palate, conductive hearing loss, and malformed or absent ears |
Treacher Collins Syndrome |
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Which are each of these associated with? 1. clinodactyly 2. 2-3 syndactyly 3. small 5th fingernail 4. short 4th and 5th fingers 5. triphalangeal thumbs 6. hypoplastic distal phalanges |
1. Downs, Fetal alcohol syndrome, Russel Silver Syndrome, Pierre-Robin Syndrome
2. Smith-Lemli-Opitz 3. Fetal Alcohol Syndrome 4. Turners 5. Holt Oram Syndrome and Diamond Blackfan Anemia 6. Warfarin exposure in utero |
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unilateral absence or hypoplasia of the medial (sternal) portion of the pectoralis major muscle Associated ipsilateral anomalies include hypoplasia or absence of the breast/nipple and shortened upper extremity associated with syndactyly |
Poland sequence |
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large for gestational age and continue to grow rapidly during the first 4–5 years of life then growth rate returns to normal large feet/hands, generalized hypotonia, moderate-to-severe delays in acquisition of motor skills, mild MR, hemihypertrophy may be present and cause increased risk of Wilm's, neuroblastoma |
Sotos syndrome (cerebral gigantism) |
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At least two of the following: 6 or more café-au-lait macules (>5mm prepuberty, >15mm postpuberty) 2 or more neurofibromas of any type or 1 plexiform neurofibroma Auxillary frecklingIris hamartomas (Lisch nodules) A distinctive osseous lesion, such as sphenoid dysplasia or thinning (bowing) of the long bone cortex A 1st degree relative with NF1 |
Neurofibromatosis type 1 |
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bilateral acoustic neuromas, meningioma, glioma, schwannoma, and/or juvenile posterior subcapsular lens opacity (juvenile cataract). |
Neurofibromatosis type 2 |