Genetics/Metabolics Flashcards by Erin Aldag

What are the clinical findings of CHARGE

Coloboma
Heart problems
Atresia of the choanae
Restricted growth
Genital abnormalities
Ear abnormalities

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What is Menkes Disease?

X-linked recessive dysfunction of copper metabolism w impaired absorption and transport
- intellectual disability and collagen abnormalities

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What is the genetic chromosomal change in Fragile X

Chromosome break at Xq27

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What is the chromosomal change in Angelman Syndrome?

15q11-13 deletion on maternal chromosome

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What is the chromosomal change in Prader-Willi Syndrome?

15q11-13 deletion on paternal chromosome

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What syndrome is associated with 47, XXY?

Klinefelter Syndrome

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What other syndrome has similar characteristics to homocystinuria?

Marfan syndrome - both have long extremities, arachnodactyly, pectus excavatum, scoliosis.
But homocystinuria also has developmental delay and risk of thrombosis

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Mucopolysaccharidoses type 1 is also known as

Hurler Syndrome

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What are the features of Hurler syndrome/Mucopolysaccharidosis?

Coarse facial features, frequent upper respiratory infections, macrocephaly, hernia, thickened heart valves

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Absent or hypoplastic radii with present thumbs is in what syndrome?

thrombocytopenia with absent radius syndrome
SERIOUSLY

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What is Roberts Syndrome?

prenatal growth restriction, microcephaly, cleft lip and palate, and limb malformations - thumb aplasia or hypoplasia can be seen

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What is Townes-Brocks Syndrome?

Imperforate anus, dysplastic ears with hearing loss, and thumb malformations

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Name three syndromes that have abnormal thumbs

Townes-Brocks Syndrome, Roberts Syndrome, Fanconi anemia

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What is the pathophys of Wilson disease

decreased biliary copper excretion

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Name findings of Rett Syndrome

loss of motor skills and language skills, stereotypic hand movements, gait dyspraxia, episodes of hyperventilation followed by hypoventilation, apnea during wakefulness, periods of screaming, seizures, delayed GI motility, acrocyanosis (2/2 autonomic dysfunction), growth failure

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What is treatment for homocystinuria?

Pyridoxine - helps improve activity of deficient enzyme that converts homocysteine to cystathionine

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What is Cornelia de Lange syndrome?
besides something you may never actually see

sporadic autosomal dominant - long eye lashes, thin confluent eyebrow “brushed-on”, shorted nose with thin philtrum, downturned upper lip, hirsutism, finger and toe abnormalities

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What cardiac condition are patients with Noonan syndrome at increased risk for?

pulmonic stenosis

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What cardiac condition are patients with Turner syndrome at increased risk for?

coarctation of the aorta

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What is the abnormal amino acid that is detectable for maple syrup urine disease (MSUD)?

L-alloisoleucine

What is the treatment for MSUD?

branched-chain amino acid restriction

What is the substance to be restricted for phenylketonuria?

phenylalanine

Refractory treatment depression with tremor and elevated aminotransferases… think

Wilson disease - disorder of copper metabolism

What is the genetic change of myotonic dystrophy?

CTG trinucleotide repeat on the DMPK gene on chromosome 19

What are symptoms of myotonic dystrophy?

weakness and atrophy of the facial muscles, neck or distal extremities may also be affected, proximal muscles spared

What are clinical and laboratory findings with Wiskott-Alrich syndrome?

recurrent pyogenic infections from encapsulated bacteria, bleeding from thrombocytopenia and plt dysfunction, atopic dermatitis

What genetic thing puts you at increased risk of T1DM?

HLA-DR3 haplotype

Polyostotic fibrous dysplasia, precocious puberty, and cafe au lait spots --> ??

McCune-Albright Syndrome May also get follicular cysts and premature vaginal bleeding due to suppressed FSH and LH

How do you test for McCune-Albright syndrome?

What is Klippel-Feil syndrome

congenitally fused cervical vertebrae, limited ROM of neck, low hair line, torticollis, failure of scapula to descend and atlantoaxial instability

What are the findings of Chediak-Higashi syndrome?

defective lysosome degranulation and natural killer cell function --> increases susceptibility to infections of mucus membranes, skin, and respiratory tracts

how do you make the diagnosis of Chediak-Higashi syndrome?

large granules in neutrophils, prolonged bleeding (impaired plts aggregation)

What is Smith-Lemli-Opitz syndrome

AR disorder of cholesterol metabolism -microcephaly w narrow bifrontal diameter, broad nasal tip, hypertelorism, cleft palate and micrognathia, low set ears, ambiguous genitalia

What is Zellweger spectrum disorder?

disorder of peroxisomal biogenesis- hepatic and renal dysfunction Large anterior fontanelle, high forehead, epicanthal folds, cataracts, broad nasal bridge, jaundice

What is Menkes disease?

X-linked impaired uptake of copper Full cheeks with sagging jowls and lips, sparse hair/eyebrows, neuro degeneration by 2-3 months of age

What renal abnormality is associated with Turner syndrome?

horseshoe kidney, pelvic kidney, unilateral renal aplasia

What MSK finding is associated with Turner syndrome

short stature, cubitus valgus of the elbow, hyperconvex finger nailes

Williams syndrome

periorbital fullness, wide mouth with full lips, socially engaged and endearing, unafraid of strangers. Supravalvular aortic stenosis

What infection does galactosemia put patients at risk for?

E. coli sepsis

What are common exam findings of galactosemia?

cataracts, growth failure, jaundice (usually found in infancy)

What are findings of Kallmann syndrome?

secondary hypogonadism (no facial hair, small testicles), with 1 or more nongonadal congenital abnormality --> anosmia or hyposmia during testing of CN1, midline facial abnorm, color blindness, hearing loss LOW FSH/LH

What is Mucopolysaccharidosis type 2 aka Hunter syndrome

the only x-linked MPS gradual accumulation of GAGs in brain, bones, lungs, heart, liver, spleen short stature, skeletal deformities, joint stiffness, thick skin, hypertelorism, coarse facial features, GAG accumulation in cardiac valve leaflets

What is a Barr body?

condensed chromatin seen in female cells due to inactive X chromosome

What is Waardenburg syndrome?

mutation on PAX3 gene on chromosome band 2q35, congenital sensorineural hearing loss, pigment abnormalities of the iris, hair hypopigmentation, displacement of the medial canthi, facial asymmetry, cutaneous depigmentation

Describe findings of Trisomy 13

ventriculomegaly, agenesis of corpus callosum, midline facial defects, polycystic kidneys, cardiac septal defects, polydactyly, aplasia cutis congenita (skin lesions with tense membrane covering)

Webbed neck and cubitus valgus may be seen in what disorders?

Turner syndrome OR Noonan syndrome

What is WAGR syndrome?

wilms tumor, aniridia, genitourinary malformations, reduced intellectual disability