Genetics Flashcards
Low set ears, hypertelorism, short/webbed neck, short stature, coarse/curly hair. What is the #1 cardiac defect? What other organs involved?
Noonan syndrome. Pulmonary valve stenosis. Also have SN hearing loss, vision problems, intellectual disability, and cryptorchidism.
Karyotype in Noonan syndrome?
Normal. Appears like Turner’s syndrome but occurs in females AND males.
Premature closure of cranial sutures, choanal atresia, syndactyly
Apert Syndrome
Craniosynostosis, high prominent forehead, shallow orbits with proptosis, beak nose
Crouzon syndrome
Socially awkward, normal intelligence, infertile with small testes, tall for age, gynecomastia. Treatment?
Klinefelter. Tx with testosterone
Flat nasal bridge, high arched eyebrows, severe DD, cleft lip and palate, FTT.
Wolf-Hishchorn Syndrome
Stellate irides, bitemporal narrowing, elfin face (thick lips, flat philtrum), very social personality. What heart defect is found? Dx?
William’s Syndrome. Supravalvular aortic stenosis. This is microdeletion- dx with FISH or microarray
Cleft palate, hypocalcemia, bulbous nose, cardiac abnormalities. First test to order for dx?
FISH
Unibrow (synophyrs), hirsutism, oligodactyly, long disordered lashes
Cornelia de Lange Syndrome
Down-slanting palpebral fissures, malar hypoplasia, microtia, lower eyelid coloboma. Inheritance?
Treacher Collins. Autosomal dominant.
Risk of down syndrome in 22 yo? 40 yo?
1/1500 in 22 yo; 1/90 in a 40 yo
Punched out scalp lesions, holoprosencephaly, polydactyly, cleft lip and palate
Trisomy 13
Rocker bottom feet, clenched fist, hypoplastic nails, prominent occiput, horseshoe kidney
Trisomy 18
ASD, 3-jointed thumb, upper extremity defects
Holt-Oram syndrome (Heart-Arm)
Self-mutilation, choreiform movements, intellectual disability. Elevated uric acid levels
Lesch Nyhan Syndrome
Precocious puberty, cafe au lair spots, fibrous dysplasia
McCune Albright Syndrome
Most common form of INHERITED intellectual disability in boys
Fragile X Syndrome
Most common cause of GENETIC disability
Down syndrome
Floppy baby, almond shaped eyes, ID, talkative, obese with small testicles. What chromosomal abnormality?
Prader-willi syndrome. Results from deletion of PATERNAL chromosome 15, or MATERNAL disomy
Severe DD, frequent laughter outbursts, seizures/ataxia. What chromosomal abnormality?
Angelman syndrome. MATERNAL deletion on chromosome 15, or PATERNAL disomy.
Chronic granulomatous disease. Inheritance?
x-linked recessive. ONLY males affected
Wiskott aldrich syndrome inheritance?
x-linked recessive. ONLY males affected
Absence of corpus collosum, macrocephaly, seizures, ocular abnormalities
Aicardi syndrome
Severe hypotonia, droopy mouth, microphallus, fusion of 2nd and 3rd toes
Smith-Lemli-Opitz Syndrome. Elevated 7-dehydrocholesterol.
CHARGE syndrome stands for?
Coloboma, Heart disease, Atresia (choanal), Retarded growth, GU anomalies (genital hypoplasia), Ear anomalies (hearing loss)
VACTERL stands for? What finding in newborn is a clue?
Vertebral defects, Anal atresia, Cardiac (VSD), TE fistula, Radial hypoplasia/Renal anomalies, Limb anomalies. Presents with single umbilical artery
Kids with potter sequence ultimately die of what?
Pulmonary complications
Broad thumb + cryptorchidism
Rubinstein-Taybi Syndrome
Valgus vs. varus
ValGUM (think gum sticking knees together), VAIRus is opposite (think air between the knees)
Coarse facies, thick skull, severe ID, corneal clouding, HSM, progressive deafness. Inheritance?
Hurler’s syndrome. Autosomal recessive.
Wide spaced teeth, friendly personality and HYPERcalcemia
William’s syndrome
Micrognathia, cleft palate, glossoptosis
Pierre-Robin Sequence
Glossoptosis, hearing loss, cleft palate, micrognathia
Stickler Syndrome
Mucosal pigmentation of lips and gums, hamartomatous polyps of intestine. Inheritance? Tx?
Peutz-Jeghers syndrome. Autosomal dominant. Tx polyp resection
Port wine stain, DD, seizures, hemiplegia. What eye abnormality at risk for?
Sturge Weber syndrome. Glaucoma
Neonatal blistering skin rash that gives way to swirling pattern of skin hyper pigmentation. Mother with similar story. Inheritance?
Incontinentia pigmenti. X-linked dominant (lethal in males)
Short limbs, mid face hypoplasia, hyper extensible joints, genu varum. What gene?
Achondroplasia. Fibroblast growth factor gene.
Gene abnormality of COL1A1 and COL1A2
Osteogenesis imperfecta
Deletion of 11p
WAGR syndrom
Deletion of 7q11
Williams syndrome
14 yo boy with progressive weakness of upper extremities, contractures, heart abnormalities
Emery-Driefuss muscular dystrophy
Rash with telangiectases and photosensitivity, severe cheilitis, growth deficiency associated with primary hypogonadism, and increased susceptibility to neoplasms
Bloom’s Syndrome
