Syndromes a GC should recognize Flashcards
Gestalt
Configuration or pattern of elements so unified as a whole that its properties cannot be derived from a simple summation of its parts
Syndrome
A group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms
Malformation
Intrinsically abnormal development
Deformation
Alteration in form or function due to extrinsic (outside) force
Sequence
A cascade of results from a single primary event
Association
Nonrandom cluster of multiple anomalies, not thought to have a single cause thought to arise early in development
Clinodactyly
Bent pinky
Plagiocephaly
Abnormal shape of the back of the head
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
Noonan syndrome
- low, posteriorly rotated ears
- webbed neck
- droopy eyelids
- short stature
- heart defect (50-80%)
- DD
- coagulation defects
- lymphatic disease
- “male turner syndrome”
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
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
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
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
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
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)
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
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)
Tuberous sclerosis
- shagreen patch
- ash leaf macules
- ungual fibromas
- retinal nodular fibromas
- CNS tumors
- seizures
- DD
- cardiac abnormalities (rhabdomyoma, arrhythmia)
Ectodermal dysplasia
- sparse, light-colored hair & eyebrows
- missing/abnormally shaped teeth
- dysplastic nails
- hypohidrosis
- hyperthermia
Treacher Collins
- cheek hypoplasia
- jaw hypoplasia
- dowslanting palpebral fissures
- cleft palate
- hearing loss
Progeria
- alopecia
- accelerated aging
- cause of death: MI, stroke
CHARGE
- coloboma
- heart defect
- atresia of chonae
- retardation
- genital
- ear abnormalities/hearing loss
AD. Typically de novo. CHD7 mutations
Cutis laxa
- reverse V eyebrows
- beak nose
- wrinkly skin
- cardiac disease (tortuosity of vessels)
- osteoporosis
- prolapse of uterus
Cleft & lip pit
van der Woude syndrome (AD)
hyperpigmented macules of lips & buccal mucosa
Peutz-Jeghers syndrome
Cherry red spot (retina of eye)
tay sachs disease
brushfield spots
Down syndrome
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
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
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
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
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
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
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
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
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)
Pallister Hall
- -Polydactyly
- -Hypothalmic hamartoma
- -Bifid epiglottis
- -Imperforate anus
- -Anal stenosis
AD. GLI3 mutations
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
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
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
Kabuki Syndrome
- -Distinctive facial features
- -Prominent finger pads
- -Heart defect
- -Growth retardation
- -Colobomas
Majority caused by MLL2 muations
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
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
