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Flashcards in Syndromes a GC should recognize Deck (44):
1

Gestalt

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

2

Syndrome

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

3

Malformation

Intrinsically abnormal development

4

Deformation

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

5

Sequence

A cascade of results from a single primary event

6

Association

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

7

Clinodactyly

Bent pinky

8

Plagiocephaly

Abnormal shape of the back of the head

9

William's syndrome

-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

10

Noonan syndrome

-low, posteriorly rotated ears
-webbed neck
-droopy eyelids
-short stature
-heart defect (50-80%)
-DD
-coagulation defects
-lymphatic disease
*"male turner syndrome"

11

Waardenburg syndrome

-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

12

Marfan syndrome

-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

13

Neurofibromatosis type 1

-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

14

Achondroplasia

-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

15

Fragile X

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

16

Ehlers Danlos syndrome

-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)

17

Myotonic dystrophy

-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

18

Beckwith-Wiedemann syndrome

-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

Tuberous sclerosis

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

20

Ectodermal dysplasia

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

21

Treacher Collins

-cheek hypoplasia
-jaw hypoplasia
-dowslanting palpebral fissures
-cleft palate
-hearing loss

22

Progeria

-alopecia
-accelerated aging
-cause of death: MI, stroke

23

CHARGE

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

AD. Typically de novo. CHD7 mutations

24

Cutis laxa

-reverse V eyebrows
-beak nose
-wrinkly skin
-cardiac disease (tortuosity of vessels)
-osteoporosis
-prolapse of uterus

25

Cleft & lip pit

van der Woude syndrome (AD)

26

hyperpigmented macules of lips & buccal mucosa

Peutz-Jeghers syndrome

27

Cherry red spot (retina of eye)

tay sachs disease

28

brushfield spots

Down syndrome

29

Aarskog

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

Antley-Bixler

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

Bardet-Biedl

--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

Branchio-Oto-Renal

--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

Cornelia de Lange

--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

Coffin Siris

--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

Rubinstein Taybe

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

36

Cri du chat

--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

Greig cephalopolydactyly

--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

Pallister Hall

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


AD. GLI3 mutations

39

Acrocallosal syndrome

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

AR. KIF7 mutations

40

Joubert syndrome and other related disorders (JS and JSRD)

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

VACTERL

--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

Kabuki Syndrome

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


Majority caused by MLL2 muations

43

Coffin Lowry

--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

Kallman

--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