Download - Zitelli Picture Review - Genetics
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Zitelli (and more!) Review:Genetic Syndromes
February 2, 2009Thanks to Katherine King for many of
these slides!
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But first…
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How old is the child who drew this picture?
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• 4-year-old child• Five features: eyes,
nose, mouth, hair, and legs
• Calculating the age equivalent: ¼ year for each of the five features, added to a base age of 3 years
• Drawing has an age equivalent of 4¼
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• Drawing by the same child at age 5
• Inclusion of ears and arms, as well as improvements in proportion
• Drawing has an age equivalent of 4¾ years
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Ok, now for some genetics!Minor malformations
14% general populationUsually a cosmetic issue rather than a functional
problem…
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• Preauricular skin tag• Clinodactyly of the fifth finger
• Macroglossia• Microretrognathia
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Major malformations
1% general populationFunctional significance
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Encephalocele
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Cleft lip and palate
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Meningomyelocele
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Ectrodactyly (previously termed lobster-claw deformity)
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Polydactyly (postaxial)
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Bilateral clubfoot
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Hypospadias
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Fused labia with enlarged clitoris
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Imperforate anus
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Chromosomal Disorders:Aneuploidy
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• Midline defect• Clenched hand with overlapping fingers • Postaxial polydactyly• Equinovarus deformity• Punched-out scalp lesions of aplasia cutis congenita
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Trisomy 13 (Patau)
• Microphthalmia, coloboma, loose skin, rocker bottom feet, missing rib
• Syndactyly or polydactyly• Cardiac dextroposition, ASD, PDA, VSD• Incidence 1:12000• 5% survive first 6 months • Death usually by heart failure or infection
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Trisomy 13
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• Prominent occiput and low-set, posteriorly rotated malformed auricles
• Clenched hand showing typical pattern of overlapping fingers
• Rocker-bottom feet
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Trisomy 18 (Edward)
• Incidence 1:4000 live births• Males : females 1:3• 5-10% survive first year• Death usually due to heart failure or
pneumonia
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Trisomy 18
• Meckel’s diverticulum, horseshoe kidneys
• Hypertonicity clenched fists and crossed legs, prominent occiput, 5th fingernail hypoplasia, dorsiflexed short hallux
• Short sternum, mental retardation
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• Characteristic facial features:–Upward-slanting
palpebral fissures
–Epicanthal folds–Flat nasal bridge
• Brushfield spots
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• Bridged palmar crease: two transverse palmar creases are connected by a diagonal line
• Wide space between first and second toes
• Short fifth finger
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• Small ears • Flat occiput
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Trisomy 21
• Incidence 1:600-800• Incidence increases with
maternal age
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Trisomy 21: Physical Findings• Hypotonia• Small head• Epicanthal folds• Flat nasal bridge• Upward slanting
palpebral fissures• Brushfield spots
• Small mouth and ears• Extra skin at the nape
of neck• Single transverse
palmar crease• 5th finger clinodactylyl• Sandal toe gap
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Trisomy 21: Associated defects• Congenital heart defects• Mental retardation• Leukemia• Hearing loss, otitis media• Hirschsprung disease, duodenal
atresia• Cataracts• Thyroid disease• Hip dislocation• Atlantoaxial instability/dislocation
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• Webbed neck with low hairline
• Shield chest with widespread nipples, abnormal ears, and micrognathia
• Prominent lymphedema of hands and feet
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Turner: XO
• Incidence 1:10000 females• Most conceptions result in
miscarriage• Low fertility rate and high chance
of chromosomal abnormalities in offspring
• Estrogen replacement therapy
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Turner: XO
• Webbed neck, edema of hands/feet• Coarctation of the aorta• Triangular facies, short stature• Short stature, shield chest, wide-spaced
nipples• Streak ovaries, absence of secondary sex
characteristics
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• Relatively narrow shoulders
• Increased carrying angle of arms
• Female distribution of pubic hair and normal penis but with small scrotum due to small testicular size
• Small testes and penis• Gynecomastia
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Klinefelter: XXY• Incidence 1:1000• Prepubertal boys
have normal phenotype
• Diagnosis often made after puberty
• Treatment: testosterone replacement
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Klinefelter: XXY
• Microorchidism• Sterility/azoospermia• Gynecomastia• Normal-borderline IQ• Diminished facial hair• Lack of libido• Tall, eunuchoid body
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Chromosomal disorders:deletions, etc…
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Cat-eye syndrome: extra chromosome from Chr. 22
• Iris coloboma• Downslanting
palpebral fissures, malformed pinna
• Anal atresia
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Wolf Hirschhorn(Del 4p)
• Microcephaly, growth deficiency
• Hypotonia, seizures, developmental delay
• micrognathia, cleft palate/lip
• hypospadias• ASD
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Wolf Hirschhorn (Del 4p)
• Detectable by FISH• “Greek warrior helmet”
appearance of nose and eyes
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Cri du Chat (Del 5p)
• Slow growth• Cat-like cry• Hypotonia, DD, low IQ• Microcephaly• Single palmar crease• Hypertelorism
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Cri du Chat (Del 5p)
Deletion is of paternal origin in 80% of denovo
cases
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Multigene sequence disorders
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DiGeorge (Del 22q11)
• Cardiac• Abnormal facies
• Thymic Hypoplasia• Cleft palate
• Hypocalcemia
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DiGeorge (Del 22q11)
• Mild microcephaly• Cleft palate• Speech delay• Long tapering fingers• Emotional lability
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Williams (7q11.23)
• Contiguous gene disorder involving elastin and other genes
• FISH testing available• Ca restriction may be necessary
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Williams (7q11.23)
• Short stature• Supravalvular aortic stenosis (SVAS)• Elfin-facies• Hypercalcemia• Developmental delay• Friendly personality (“cocktail
personality”)
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Miller-Dieker (17p13)
• Lissencephaly (smooth brain)• Severe cognitive, developmental delay and
seizures
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Single gene disorders
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• Anteverted nostrils• Low-set ears• Small chin
• Clenched hand• Ambiguous genitalia (pts may also
have hypospadias or cryptorchidism)
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Smith-Lemli-Opitz (11q12)
• Incidence 1:20,000• Abnormality in cholesterol biosynthesis due to
single gene mutation: sterol delta-7 reductase gene
• Autosomal recessive• Cholesterol supplementation may be helpful
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Smith-Lemli-Opitz (11q12)
• Failure to thrive• Low IQ• Microcephaly, ptosis, anteverted nostrils,
micrognathia• Simian crease, syndactyly• Genital abnormalities (hypospadias,
micropenis, bifid scrotum)• Renal anomalies, UPJ obstruction
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• Arachnodactyly (both fingers and toes)
• Clubbing due to associated cardiopulmonary problems
• Flattening of the arch of his foot
• Severe pectus carinatum• Significant kyphosis and
joint contractures• Long arms
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Marfan (15q21)
• Mutations in fibrillin gene• Disproportionate growth• Joint hyperextensibility• Lens dislocation• Dilation of the aortic root• Genetic testing is difficult
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• Marked hyperextensibility of the skin
• Widened atrophic scars have thin papery texture
• Hyperextensibility of the joints of the elbow and fingers
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Ehlers Danlos 2q31
• Defect in Type 3 collagen• Autosomal dominant• Hyperelasticity• Hyperflexible, hypermobile joints
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• Mutation in neurofibromin gene• Abnormal peripheral nerve growth• Incidence of 1:4000• Autosomal dominant
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Neurofibromatosis I (17q11)
• Six or more café au lait spots >5mm in diameter• 2 or more neurofibromas• Axillary or inguinal freckling• 2 or more Lisch nodules (benign iris hamartoma)• Optic pathway tumor• Bowing of bone structure • First degree relative with NF1
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Tuberous Sclerosis
Ash leaf spot
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Tuberous Sclerosis
• Autosomal dominant• TSC1 gene (chr. 9) or TSC2 gene (Chr. 16) are tumor
suppressors• Seizures/MR/adenoma sebaceum• Seizures in early infancy correlate with later MR• Renal lesions (cysts, angiomyolipomas)• CV: rhabdomyomas• Retinal hamartomas
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Achondroplasia 4p16.3
• Mutation in the fibroblast growth factor receptor-3 gene (FGFR3)
• Autosomal dominant• Short-limb dwarfism
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Achondroplasia
• Frontal bossing, midface hypoplasia• Cranio-cervical junction problems (sometimes
leading to cord compression or hydrocephalus)
• Lumbar lordosis• Normal intelligence
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Rubenstein-Taybi (16p13)
• Deletion in the transcriptional regulator CREB binding protein
• Developmental delay, feeding problems• Growth failure• Microcephaly, broad thumbs• Prominent nose, small chin• 25% detectable by FISH
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Holt Oram (12q2)
• Autosomal dominant• Mutation in TBX1 gene• Marked variability in expression• Upper limb and shoulder defects:
– absent thumb, triphalangeal, or bifid– Syndactyly– phocomelia
• ASD alone, or VSD
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• Long, wide, and protruding ears• Elongated face
• Flattened nasal bridge• Macro-orchidism
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Fragile X Syndrome
• Mutation of FMR1 gene on chromosome X (trinucleotide repeat expansion)
• 1:4000 males• Most present with MR
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Fragile X Syndrome
• Language and motor delays, hypotonia• Prominent ears, long face• Hyperextensible joints• Flat feet• High arched palate• Macroorchidism• Hyperactivity, autistic features
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Uniparental disomy
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• Maxillary hypoplasia• Large mouth• Prognathism
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Angelman
• Seizures• Jerky, ataxic movements• Abnormal facies• Chromosome 15 deletion with maternal
imprinting
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• Marked obesity• Excess fat over the
trunk, buttocks, and proximal extremities
• Small hands (and feet)
• Hypoplastic penis and scrotum
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Prader-Willi• Low tone• Large appetite—
obesity• Hypogonadism• Developmental
delay/MR• Chromosome 15
deletion, paternal imprinting
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Genetics still poorly defined
?
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Noonan (12q24)
• Autosomal dominant• Short stature• Congenital heart disease• Webbed neck• Downslanting palpebral fissures• Low set ears• Mild developmental delay
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Noonan (12q24)
Downslanting palpebral fissures
Low, posteriorly rotated ears
Webbed neck
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• Finely arched heavy eyebrows
• Long eyelashes• Small upturned nose• Long smooth philtrum• Cupid's-bow mouth• Small hands• Hypoplastic proximally
placed thumb• Short fifth finger with
mild clinodactyly
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Cornelia De Lange (5p13)
• Sporadically occurring• Severe growth retardation, limb anomalies• Congenital heart disease• Synophrys• Thin, downturned lips
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Goldenhar (14q32)
• Vertebroauriculofacial syndrome
• Hemifacial microsomia• Ear anomalies, deafness• Epibulbar dermoid (fatty
tumor of eye)• Vertebral anomalies (Chiari I)• MR or Normal intelligence
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Kabuki• Hypertelorism, long palpebral fissures, large pinnae• Developmental delay• Hearing loss• Possibly due to 8p deletion
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Pierre Robin Sequence
• Glossoptosis, micrognathia, cleft palate• 1:8500 live births• Airway and feeding problems• Unknown cause• Surgical treatment
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• Short palpebral fissures and ptosis
• Low-set, dysplastic ears• Small chin• Choanal atresia
necessitated tracheotomy• Prominent forehead• Hypertelorism• Narrow palpebral fissures• Hypoplasia of the right
naris• Cupid's-bow mouth
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CHARGE
• Incidence 1:10,000• Coloboma• Heart• choanal Atresia• Retardation• Genital hypoplasia• Ear abnormalities,
deafness
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• Facial features are not dysmorphic
• Preaxial polydactyly of the thumb (which was associated with radial dysplasia)
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VACTERL
• Vertebral defects• imperforate Anus• Cardiac malformations (VSD)• TracheoEsophageal fistula• Renal anomalies• Limb (radial ray) anomalies
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• Short palpebral fissure length
• Mild ptosis• Long simple
philtrum
Fetal alcohol syndrome
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MELAS
• Pt presented with mild cognitive delay, short stature, neutropenia, and Wolff-Parkinson-White syndrome at age 4.
• By age 6 he had muscle weakness and visual and hearing impairment as a result of a series of strokes.