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x_NeuroGenetics Review > Syndromes a GC should recognize > Flashcards

Syndromes a GC should recognize Flashcards

1
Q

Gestalt

A

Configuration or pattern of elements so unified as a whole that its properties cannot be derived from a simple summation of its parts

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2
Q

Syndrome

A

A group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms

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3
Q

Malformation

A

Intrinsically abnormal development

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4
Q

Deformation

A

Alteration in form or function due to extrinsic (outside) force

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5
Q

Sequence

A

A cascade of results from a single primary event

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6
Q

Association

A

Nonrandom cluster of multiple anomalies, not thought to have a single cause thought to arise early in development

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7
Q

Clinodactyly

A

Bent pinky

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8
Q

Plagiocephaly

A

Abnormal shape of the back of the head

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9
Q

William’s syndrome

A
  • coarse facial features
  • puffy face/eyes
  • larger mouth (wide)
  • stellate/lacy iris pattern
  • hoarse voice
  • cocktail personality
  • connective tissue problems
  • ID
  • cardiovascular problems
  • psychiatric problems - anxiety
  • growth deficiency/failure to thrive
  • hyperacuity
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10
Q

Noonan syndrome

A
  • low, posteriorly rotated ears
  • webbed neck
  • droopy eyelids
  • short stature
  • heart defect (50-80%)
  • DD
  • coagulation defects
  • lymphatic disease
  • “male turner syndrome”
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11
Q

Waardenburg syndrome

A
  • heterochromia
  • white forelock
  • dystopia canthorum (lateral displacement of inner canthi - appears like a widened nasal bridge)
  • congenital leukoderma (white patches on skin)
  • sensorineural hearing loss
  • normal intelligence
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12
Q

Marfan syndrome

A
  • horizontal stretch marks
  • tall stature
  • disproportionate wing span & Upper/Lower segment
  • arachnodactyly (long, slender fingers)
  • retromicrognathia
  • pectus excavatum/pectus carinatum
  • dilated aorta, MVP, dissected aorta
  • pneumothorax
  • dural ectasia
  • severe myopia
  • ectopia lentis
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13
Q

Neurofibromatosis type 1

A

-axillary freckling
-Lisch nodules
-neurofibromas
-6 or more cafe-au-lait spots
-plexiform neurofibromas
-optic nerve & CNS gliomas
malignant peripheral nerve sheath tumors
osseous (bony) lesions

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14
Q

Achondroplasia

A
  • disproportionate small stature (normal trunk, small limbs)
  • trident hand
  • lumbar lordosis
  • frontal bossing
  • macrocephaly
  • cervical instability
  • sleep apnea
  • tubular bones, bowed legs & other skeletal abnormalities
  • hypotonia
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15
Q

Fragile X

A
  • long face
  • prominent forehead & chin
  • large, cupped & protruding ears
  • hypermobility
  • macroorchidism
  • ID
  • autism
  • CHD such as MVP
  • echolalia
  • hand flapping or other repetitive behaviors
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16
Q

Ehlers Danlos syndrome

A
  • hyperelastic skin
  • striae
  • thin & translucent skin
  • smooth, velvety skin
  • poor wound healing
  • hypermobility
  • subluxation/dislocation of joints
  • joint pain
  • easy bruising
  • recurrent hernias
  • vascular dissection/rupture, gastrointestinal perforation, or organ rupture (EDS IV)
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17
Q

Myotonic dystrophy

A
  • long face, tented open mouth (myotonic facies)
  • cataracts
  • positional malformations of feet
  • problems releasing hands
  • myotonia (inability to relax muscles after vigorous activity)
  • muscle weakness & wasting
  • cardiac conduction defects
  • severe hypotonia
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18
Q

Beckwith-Wiedemann syndrome

A
  • umbilical hernia
  • macroglossia
  • overgrowth
  • abnormal ear folding
  • visceromegaly (enlargement of organs)
  • hypoglycemia
  • structural & functional renal abnormalities
  • increased risk for embyonal tumors (Wilm’s tumor, hepatoblastoma, neuroblastoma)
19
Q

Tuberous sclerosis

A
  • shagreen patch
  • ash leaf macules
  • ungual fibromas
  • retinal nodular fibromas
  • CNS tumors
  • seizures
  • DD
  • cardiac abnormalities (rhabdomyoma, arrhythmia)
20
Q

Ectodermal dysplasia

A
  • sparse, light-colored hair & eyebrows
  • missing/abnormally shaped teeth
  • dysplastic nails
  • hypohidrosis
  • hyperthermia
21
Q

Treacher Collins

A
  • cheek hypoplasia
  • jaw hypoplasia
  • dowslanting palpebral fissures
  • cleft palate
  • hearing loss
22
Q

Progeria

A
  • alopecia
  • accelerated aging
  • cause of death: MI, stroke
23
Q

CHARGE

A
  • coloboma
  • heart defect
  • atresia of chonae
  • retardation
  • genital
  • ear abnormalities/hearing loss

AD. Typically de novo. CHD7 mutations

24
Q

Cutis laxa

A
  • reverse V eyebrows
  • beak nose
  • wrinkly skin
  • cardiac disease (tortuosity of vessels)
  • osteoporosis
  • prolapse of uterus
25
Q

Cleft & lip pit

A

van der Woude syndrome (AD)

26
Q

hyperpigmented macules of lips & buccal mucosa

A

Peutz-Jeghers syndrome

27
Q

Cherry red spot (retina of eye)

A

tay sachs disease

28
Q

brushfield spots

A

Down syndrome

29
Q

Aarskog

A

Primarily affects males; females may exhibit mild characteristics. (XLR)

  • -Rounded face w/broad forehead
  • -Missing teeth; enamel hypoplasia
  • -Disproportionate short stature
  • -Pectus excavatum
  • -Shawl scrotum; cryptorchidism; hypospadias; bifid scrotum
  • -Mild ID
30
Q

Antley-Bixler

A

Sterol biosynthesis defect (AR in POR gene)

  • -Craniosynostosis
  • -Brachycephaly w/frontal bossing
  • -Bulging eyes (proptosis)
  • -Severe midface hypoplasia
  • -Marfanoid features
  • -Renal anomalies
  • -Ambiguous genitalia in men and women
  • -Maternal virulization during pregnancy w/affected fetus
  • -DD/ID
31
Q

Bardet-Biedl

A
  • -Rod cone dystrophy (vision loss proceeded by night blindness)
  • -Truncal obesity
  • -Postaxial polydactyly
  • -Cognitive impairment
  • -Behavioral abnormalities
  • -Male hypogonadotrophic hypogonadism
  • -Complex female genitourinary malformations
  • -Renal abnormalities
  • -Ataxia/poor coordination
  • -CHDs

AR. 19 genes. Sometimes digenic

32
Q

Branchio-Oto-Renal

A
  • -Branchial fistula and cysts
  • -Ear malformations and hearing loss
  • -Renal malformations; ESRD in some
  • -some with facial asymmetry, palate abnormalities, preauricular tags

AD. 40% due to EYA1. 10% de novo

33
Q

Cornelia de Lange

A
  • -IUGR; Short stature
  • -Moderate to severe ID
  • -Abnormalities of bones in arms, hands, fingers
  • -2,3 syndactyly of toes
  • -Arched eyebrows w/synophrys
  • -Hypertrichosis
  • -Autism like features
  • -Microcephaly
  • -Hearing loss
  • -Cleft palate

AD or XLD. 50% due to NIPBL. Majority de novo

34
Q

Coffin Siris

A
  • -Hypoplastic or missing fifth fingers
  • -Hypoplastic or absent toenails
  • -Wide mouth w/thick lips
  • -Microcephaly
  • -Dental abnormalities
  • -Sparse scalp hair
  • -Feeding difficulties
  • -Short stature
  • -DD/ID
  • -Joint laxity w/dislocations
  • -Hypotonia
  • -other skeletal, GI, GU, cardiac malformations

Sporadic or AR

35
Q

Rubinstein Taybe

A
  • -Prominent end to nose
  • -Narrow eyes
  • -Short fingers w/abnormallly wide thumbs and great toes
  • -Short stature
  • -Hypertrichosis
  • -Vision and hearing problems
  • -ID
36
Q

Cri du chat

A
  • -Distinctive cat like cry during infancy
  • -Hypotonia which may lead to feeding problems
  • -Growth retardation
  • -Severe cognitive, speech, motor delays
  • -Significant ID
  • -Hyperactivity, aggression, tantrums, repetitive movmts
  • -Coarsening facial features over time
  • -Microcephaly, micrognathia, round face w/full cheeks, downturned mouth
  • -CHDs
  • -Scoliosis
  • -Excessive drooling

AD. 80-90% de novo. 5p deletion. Paternal chromosome typically deleted

37
Q

Greig cephalopolydactyly

A
  • -Polydactyly
  • -Wide spaced eyes
  • -Macrocephaly
  • -Severe end: seizures, hydrocephalus, ID/DD - Typically due to large deletions

AD. GLI3 mutations or 7p13 deletions (Pallister Hall also caused by GLI3 mutations)

38
Q

Pallister Hall

A
  • -Polydactyly
  • -Hypothalmic hamartoma
  • -Bifid epiglottis
  • -Imperforate anus
  • -Anal stenosis

AD. GLI3 mutations

39
Q

Acrocallosal syndrome

A
  • -Polydactyly
  • -Cutaneous syndactyly
  • -Agenesis of corpus callosum
  • -Wide spaced eyes
  • -Macrocephaly
  • -Moderate to severe ID
  • -Intracerebral cysts
  • -Seizures
  • -Inguinal hernias

AR. KIF7 mutations

40
Q

Joubert syndrome and other related disorders (JS and JSRD)

A 
JS
--MOLAR TOOTH SIGN
--HYPOTONIA
--DD
--Trucal ataxia over time
--Neonatal tachypnea
--Abnormal eye movements
JSRD
--Colobomas
--Polydactyly
--Renal fibrosis leading to renal insufficiency
--Hepatic fibrosis
--Endocrine abnormalities
--Autism and behavior problems

Mostly AR. 19 different genes account for 50%
Digenic possible
OFD1 is XLR

41
Q

VACTERL

A
  • -Vertebral anomalies
  • -Anal atresia
  • -Cardiac anomalies
  • -TE fistula/esophageal atresia
  • -Renal anomalies
  • -Limb anomalies

–Absence of colobomas, choanal atresia, ear deformities, cranial nerve anomalies

42
Q

Kabuki Syndrome

A
  • -Distinctive facial features
  • -Prominent finger pads
  • -Heart defect
  • -Growth retardation
  • -Colobomas

Majority caused by MLL2 muations

43
Q

Coffin Lowry

A
  • -Severe to profound ID in males (normal to profound in females)
  • -Characteristic facial features develop in older children/adults
  • -Prominent forehead and supraorbital ridges w/thick eyebrows
  • -Widely spaced eyes
  • -WIde mouth, usually open
  • -Coarse facial features progressing to pugilist look
  • -Short,soft, fleshy hands w/hyperextensible fingers that taper from wide to narrow
  • -Short stature in males
  • -Microcephaly
  • -Cardiac abnormalities
  • -Stimulus induced drop attacks (SIDAs)
  • -Progressive kyphoscoliosis could lead to cardio-respiratory compromise

X-linked. RPS6KA3 mutations

44
Q

Kallman

A
  • -Hypogonadotrophic hypogonadism w/anosmia
  • -Delay/absence of signs of puberty w/absent/impaired sense of smell
  • -absence of secondary sex characteristics
  • -absence of libido/poor sexual function
  • -Occurs in both sexes but males more commonly dx
  • -Other features: cleft lip/palate, absence of 1 kidney, hearing loss, poor balance, scoliosis

AD, AR, XLR. Multiple genes. Treat w/hormone therapy

x_NeuroGenetics Review (38 decks)

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