Term
| Webbed posterior neck, cubitus valgus, low posterior Hairline, underdeveloped breasts and uterus, and short stature. |
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Definition
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Term
| Elongated face, prominent jaw, macro-orchidism, low mm tone, decreased IQ, velvety skin, hyperextensible joints, flattened nasal bridge |
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Definition
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Term
| Hyperextensible joints, tall stature, bluish sclera, flattened cornea, upward dislocation of ocular lens, high arched palate, mitral valve prolapse, aortic aneurysm |
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Definition
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Term
| Flat facial profile, flat occiput, upslanted palpebral fissures, inner epicanthal folds, brushfield spots, single palmer crease (simian crease) |
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Definition
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Term
| Bushy eyebrows, Failure-to-thrive, long curly eyelashes, small nose and anteverted nostril, thin lip with out midline notch of upper and lower lip, low IQ, generalized hirsutism, micrognathia, hypoplastic nipple, micromelia of feet, autistic/self-destructive |
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Definition
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Term
| Recurrent URI, hirsuitism, thickened skin, flat-mid face, broad nose |
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Definition
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Term
| Tall slim male, hypogonadism, long extremities, infertility, gynectomastia (30%), average IQ, personality/behavioral problem, low testosterone levels |
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Definition
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Term
| Micrognathia, beak-like nose, malformed ears, projection of scalp hair into cheeks |
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Definition
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Term
| small mouth, small jaw, Cryptorchidism, Rocker bottom feet, SGA, Low-set malformed ears, overlapping fingers, wide fontanelles, seizures, short sternum |
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Definition
| Trisomy 18/Edward’s Syndrome |
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Term
| Blue sclera, Hypermobile joints, multiple fractures, poor mm tone |
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Definition
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Term
| What term means the absence of a portion of skin in a localized or widespread area at birth? |
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Definition
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Term
| What term is described as a failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres? |
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Definition
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Term
| What is the term indicating that his jaw is small? |
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Definition
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Term
| What term means the underdevelopment or incomplete development of a tissue or organ? |
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Definition
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Term
| Which term is described as an extension or bulging out (protrusion) of the lower jaw ( mandible)? |
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Definition
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Term
| What term describes a physical condition in which the fingers are long, slender, and curved, resembling a spider's legs? |
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Definition
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Term
| Which term means the meeting of the medial eyebrows in the midline? |
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Definition
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Term
| What is the term that describes the midline groove in the upper lip that runs from the top of the lip to the nose? |
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Definition
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Term
| Which term describes a condition characterized by abnormally small and imperfectly developed extremities? |
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Definition
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Term
| Which term describes a condition of defective ossification of bone? |
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Definition
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Term
| What term means the abnormal downward or back placement of the tongue? |
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Definition
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Term
| Which term means a hole in one of the structures of the eye? |
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Definition
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Term
| Which term describes a sexually deficient individual; especially : one lacking in sexual differentiation and tending toward the intersexual state? |
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Definition
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Term
| Which term describes a flexion deformity of the finger? |
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Definition
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Term
| What is the other name for Trisomy 21? |
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Definition
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Term
| What is the other name for Trisomy 13? |
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Definition
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Term
| Microcephaly, sloping forehead, cleft lip/palate, holoprosencephaly, microphthalmia (small eye), polydactyly, shallow supraorbital ridges, broad flat nose, and severe mental retardation |
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Definition
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Term
| Which genetic d/o is 45, X karyotype (XO)? |
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Definition
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Term
| What are some common complications of Turner Syndrome? |
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Definition
| Hearing loss (50%), Renal Abnormalities (50%), Bicuspid Aortic Valve (30%), Idiopathic HTN (25%) |
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Term
| What is the tx given for Turner's syndrome? |
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Definition
| Hormone therapy during adolescence to enable development of secondary sex characteristics and stimulate menses |
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Term
| What comorbid conditions are you at a higher risk of developing with Klinefelter syndrome? |
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Definition
Breast cancer,
Diabetes,
Thyroid disease,
Scoliosis |
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Term
| Which genetic abnormality is 47 XXY karyotype or 48 XXXY? |
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Definition
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Term
| Female with no abnormal features, normal intelligence but lower IQ than siblings, delays in development/coordination |
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Definition
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Term
| Males Tend to be tall, phenotypically normal, normal intelligence but lower IQ than siblings, delay in fine motor coordination, speech d/o |
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Definition
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Term
| Mentally retarded, epicanthal folds, congenital heart deformities, radioulnar synostosis, clinodactyly, hypertelorism, incomplete sexual maturation, |
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Definition
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Term
| Which genetic condition is described as a rare, x-linked recessive d/o of the basement membranes of the kidney that results in ESRD by age 40 and hearing loss in 90% of males? |
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Definition
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Term
| obesity, short stature, infantile hypotonia, hypogonadism, cryptorchidism, almond-shaped palpebral fissures, fish-like mouth, feeding difficulty (infancy), decreased IQ, speech retardation, Cardiorespiratory problems, shortened life expectancy |
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Definition
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Term
| Which syndrome is caused 75% by paternl deletion of 15q11? |
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Definition
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Term
| With beckwith-wiedemann syndrome, what do pts have an increased risk of? |
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Definition
CA -
Wilms tumor
Rhabdomyosarcoma
Hepatoblastoma |
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Term
| Macrosomia, macroglossia, omphalocele, liner ear fissures, neonatal hypoglycemia, certain body parts grow abnormally large, |
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Definition
| Beckwith-Wiedemann Syndrome |
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Term
| protruding tongue, gait is ataxic with toe walking and jerky arm movements, speech is impaired or absent, inappropriate paroxyms of laughter, large mouth |
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Definition
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Term
| marfanoid-like habitus, archnodactyly, camptodactyl, kyphoscoliosis, crumpled ear helix, congenital contractures |
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Definition
| Beals Congenital Contractures |
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Term
| hyperextensibility, fragility of the skin and ligamentous laxity and hypermobility, sub-q fat tumors over the forearms and shins, impaired wound healing, pseudotumors formed under scars, hypotonia |
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Definition
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Term
| "Brittle Bones", fx easily, spinal curvature, loose joints, poor muscle tone, discoloration of the sclera (blue-gray), |
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Definition
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Term
| Which meds are given as a treatment for Osteogenesis Imperfecta? |
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Definition
| Bisphosphonates (Alendronate, Pamidronate_ |
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Term
| Which genetic condition has an abnormality in cholesterol biosynthesis, prominent occiput, eyelid ptosis, strabismus, low or posteriorly set ears, broad nasal tip with upturned nares? |
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Definition
| Smith-Lemli-Opitz Syndrome |
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Term
| What is the most well-known Lysosomal Storage Disease? |
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Definition
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Term
| What is the most severe mucopolysaccharidoses? |
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Definition
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Term
| coarsening of facial features, prominent forehead, flattening of midface, broad nose, flattened nasal bridge, enlargement and protrusion of the tongue, tonsillar hypertrophy, recurrent URIs, ear and sinus infection, sleep apnea, chronic upper airway obstruction, short finger b/c clawed, thickened skin |
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Definition
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Term
| What are the characteristics of CHARGE? |
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Definition
Coloboma
Heart Abnormalities
Atresia of the choanae
Retarded growth and mental development
Genital hypoplasia in males
Ear Abnormalities |
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Term
| What are the characteristics of VATER Association? |
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Definition
Vertebral anomalies
Anal anomalies
Tracheoesophageal fistula
Esophageal atresia
Radial and/or renal abnormalities |
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Term
| sheild chest, CV abnormalities, bifid uvula, downward-slanting palpebral fissures, saddle nose, flat nasal bridge, high-arched palate, low IQ |
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Definition
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Term
| irritability, poor sucking reflex, infantile hypotonia, thin vermillion border, mid-facial mypoplasia, reduced life-span, |
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Definition
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Term
| absent thymus or thymic hypoplasia, low or absent T-cell count, congenital heart disease, seizure within first few days of life, unusual facies, esophageal atresia, hypothyroidism |
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Definition
| DiGeorge (Velocardiofacial) |
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Term
| hypercalcemia, mild to moderate intellectual disability or learning problems, distinctive facial features (blue eyes with starry pattern, wide mouth, small chin, puffiness around eyes, sunken nasal bridge), heart and blood vessel problems, visual-spatial problems |
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Definition
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Term
| shallow orbits, ocular proptosis, mid-facial hypoplasia, HA, seizures, Low IQ, craniofacial dysostosis |
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Definition
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Term
| micrognathia, glossoptosis, respiratory obstruction, failure-to-thrive feeding problems |
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Definition
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Term
| pulmonary hypoplasia, oligohydramnios, usually fatal in the first few days of life, skeletal anomalies, polycystic kidney disease, renal hypoplasia, abnormal facies include flattened nose, recessed chin, epicanthal folds, and low set ears |
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Definition
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