Dysmorphology Flashcards
Malformation v Deformation
whats the difference
Malformation
- a clinically significant abnormality in form or function that results from localizard, intrinsitic defects in morphogenesis, occuring in embryonic or early fetal life
examples
- cleft lip/pallet
- tetrology of fallot
- usually traced back to a gene defect & require surgical repair
- multiple malformations appearing together: can be part of a malformation sequence, syndrome or association
Deformation
- something that arises from the environment forces acting on the tissue
- example: a fetus growing in a uterus with a fibroid: the fetus will not be able to move limbs : decreased ROM and contractures will result
examples
- club foot
- arthropgryposis multiplex congentia
Syndromes
arise from what
Clinical genetic syndromes can occur from….
- single gene mutation
- chromosomal abnormality
- exposure to teratogenic agent
- unknown factors
Approach to a Child with Facial Abnormalities
History
- birth weight (SGA, LGA, AGA)
- small BW: think teratogen expsoure and chromosomal
- large BW: maternal DM, BW syndrome
- premature or full term baby ; postmatrue = trisomy
- vaginal v. C section
- parental age at time of delivery
- moms: hx., meds, alcohol, drugs during preg.
- delayed quickening (fist feeling) = hypotonia
- amoutn of aminotic fluid: inc. = obstruction, CNS issue
- decreased = renal/urinary issue
3 generations of family hisotry to get good idea about genetic or familial influence
- simialr seen in 1st and 2nd degree relatives
- history of otehrs with neonatal loss or gentic syndromes
Physical Exam: looking for other abnormalities which may point to a syndrome
- height, weight & head circumference
- small size: chromosomal, skletal or teratogenic
- large: overgrowth, maternal DM
- Limbs: Proportional to head & trunk? short v long etc.
- head shape
Target appraoch to proper lab testing
Physical Exam Finding for dysmorphologies: Head Shapes
Head Shapes
- in newborns: molding can cause weird shapes: resovles within a few days
Shapes To Note 1 week post birth
Normocephaly
Dolichocephaly/scaphocephaly = long & thin head
- long and narrow front to back
Brachycephaly = norrow in the AP diamter and broad laterally
- tall and skinny
Plagiocephaly = asymmertric in shape
Physical Exam: Facial Features
how to approach looking at the face
asymmetric due to?
Facial Features PE
asymmetric: due to deformation > malformation (something in utero was pushing against 1 side of face)
Divide face into 4 quadrant
1. forehead
2. midface: eyebrows to upper lip (includes eyes)
3. malar region: the upper ear to midface
4. mandible: extends from lower ear to lower ear & has lower lip
Physical Exam: Facial Features
Forehead evaulation
Prominent
Frontal Bossing
Sloping
Forehead Shapes on PE
- can be prominent = like in achrondroplasis (dwarfism)
- can be deficient, sloping in those withi microcephaly
Prominent Forehead
- bluding out the front
Frontal Bossing
- larger than normal frontal bone: flat on teh front creating a prominet brow bone line & spares the midline
Sloping Forehead
- starts tiny and comes out (downward sloping)
Physical Exam: Facial Features
Midface Features
what are you looking at
Midface Features
- hypoplasia of the midface (via measurements) can show many syndromes (DS, FAS)
Eyes: To Note
- distance between eyes (hypo/hypertelorism: should be 1 eye distance between)
- interpupillary distance
- length of palpebral fissures
- dirction of palperbral fissure
- upward slant : down syndrome
- downward slant: Tracher Collins or Noonan syndrome
- epicanthal folds (the skin fold in the inner eye corner): downs syndrome, fetal alcohol
Nose : To Note
- flattening of the nasal bridge: down syndrome and fetal alcohol syndrome
- depressed nasal bridge (inward): dwarfism
Physical Exam: Facial Features
Midface: assess ears and distance to the eye
Midface: Ear to Eye Distance
- malar region: assess the position and angle of teh ears
- can be low set ears due to malformations or an issue with the mandibular region
- draw line from the edge of the eyes to the top of the ears
- there should be approx. 1/3 of the ear above the line drawn from the corner of the eye
Physical Exam: Facial Features
Mouth/Lips Region
Mandibular Region
Mouth/Lips
- philtrum: smooth = featl alcohol syndrome
- cleft lip/palate
- arched palate
- size of tongue (marcoglossia: down syndrome)
Mandibular Rregion
- mandible = small: micrognathia (trisopy 13, fetal alcohol, progeria)
- mandible = large: prognathia (acuired syndrome = not congeital)
Physical Exam: Facial Features
Neck Features
Webbing
- turner syndrome
- noonan syndrome
Shortening of neck
- skeletal dysplasias
- abnormal cervical spine
Posterior Hairline
- Turners syndrome
- genetic syndromes (others)
Physical Exam: Chest Features
sheilf shpae
pectus abnormbs.
chest asymmetry
Sheild Shape
- noonan syndrome
- turners syndrome
Pectus Abnormalities
- excavatum (inward)
- carinatum (outward)
- think marfans
Chest Asymmetry
- poland sequence
Physical Exam: Extremities Features
- general appraoch
- hands and feet findings
Exam
- always assess every ROM
- extremities are invovled in lots of syndromes
- joint contracture: think neuromusk. issue
- inability to pronante/supanate (radioulnar synostosis) = FAS and some X linked disorders
HAnds and Feet
- polydactyly (+) can be isolated OR trisomy 13
- oligosactyly (-) for fanconi syndrome or amniotic band distruption
- syndactatyly = fused together
Palmar Crease
- transverse palmar crease: indicates low tone in fetal life & seen in down syndrome
- “hockey stick apperance”
Sandal Gap Appearance
- windened between first and second toe
- down syndrome
Physical Exam: Genitalia
- exam for abnormalities in structure
Males: measure penis ( micropenis = < 1.9 cm)
ambiguous genitalia: think endocrine or chromosome disorders
hypospadias (urethra in the back)
Diagnostic Evaulation of dysmorphologys
what tests are done
Crhomosomal microarry analysis (CMA) for
- multiple congenital abnormalities
- invovling 1+ major organ systems or 2+ dysmorphic features
- intellectual disability
- ASD
Karyotyping
FISh testing: when specific disorders are tested
Imaging as needed
Acrondroplasia
Etiology
Clinical Features
Etiology
- most common short-limbed dwarfism
- autosomal dominant trait BUT 80% are due to a mutation in the fibroblast growth factor gene (FGFR3)
- disorder of cartilage calcificaltion and remodeling
Genetics
- heterozygotes = normal fertibiltiy, life and intelligence
- homozygotes: stillborn, pulmonary complications & brainstrem conpression
Clinical Features
- short stature with disproportinately short limbs compared to the trunk
- promximal segments affected more than distal
- long bones shortened and bowed
- small digits
- excessive lumbardosis and kyphoscoliosis
- large head: frontal bossing and depressed nasal bridge
- high risk for hydrocephalus because small formane magnus and increase ICP, need fot a VP shunt
Treatment
- limbg lengthening surgery is an option but controversial
- surgical management of the bowing long bones and the kyphoscoliosis
- VP shutn for hydroceph.
Marfans syndrome
Etiology
Clinical Features (and at risk of what things)
Appearance
Etiology
- a mutation in the fibrillin gener (FBN1) on chromosome 15
- autosomal dominant patteren
- conntective tissue disorder leading to a variety of malformations
Clincial Features
- skeletal disorders
- ocular lens disloacion/retinal detachment
- dilateion fo aortic root and valve dz.
- dural ectasia
- missed milestrones due to joint laxity
- high risk for PTX (since so tall and thin and stretchy)
Appearance
- long and thin
- downward slanting palpebral fissures
- high arched palapte
- dental crowding
- arm span will be 1.5x their height
- joint laxitty: thumb to wrist, thumb across
Fragile X Syndrome
etiology
Clinical features in
childhood
behavioral
Etiology
- X-linked disorder
- abnromal FMR-1 gene execessive CCG codon
- diagnosis can be considered in any child with developmental delays because the symptoms of fragile X are so subtle
Clinical Features
Early Childhood
- delayed milestones (speech)
- hypotonia
- unusual behavior
- GERD/feeding issues
Behavioral Issues
- ADHA
- Obsessive or perservativve
- emotional liability
- hypersensitivtiy to stimuli
- ASD like disorders
- intellectual:milder in females than males
Fragile X Syndrome
Postpubertal clincial symptoms
other symptoms
treatement
Post Puberty Clinical Symptoms
- large head
- long face
- prominent forehead chin and ears
- joint laxitiy
- macroorchidism
Other Symptoms
- stabismus
- joint lax.
- mitral valve prolase
- skin softness
- seziures
- neuro abnorms.
Treament
- multidisapline with peds, psychiartry, behavior and genetic counceling
Trisomy 21 (Down Syndrome)
Etiolgoy
Clincial Features
FAcial abrnomalities and feet/hands
features of intelligence, GI, heart, heme and sensory
treatment
Etiology
- extra copy of Chromosome 21
- increased risk with increased materal age
- usuallt diagnosed prenatal with US and Quad screen (4 prenatal tests)
- results in a variety of abnormalities
Clinical Features
- flat occiput on head
- flat face
- upward slanting palebral fissures
- epicanthal folds
- flat nasal bridge
- small oral cavitiy
- hypotonia
- transverse palmar creased
- sandal deformity
Additional features
- intellectual ability varies
- congential heart defects are common: AV canal, coarchtation of aorta
- GI issues: atresia, hirschprung disase, anorectal stenosis
- feeding issues
- leukemias
- hearing loss & vision issues
- conge. hypothryoid
- Atlantooxail instabiltiy
- OSA and obestiy
- alzheimer like dementia
Treatment
- primary care, specialist,s nutrtion, speech and PT, special ed. as needed
Trisomy 13
Etiology
Clinical Features
Etiology
- chromosome 13 translocation
- 50% mrtality by 1 month
Clinical Features
- microcephaly and sloping forehead
- microphthalmia (small eyes)
- cleft lip and palate
- congenital herat defects (VSD, ASD, PDA)
- GI protrudes through umbilicus: omphalocele
- polydactaly
- renal defects
- absent corpus callosum
Trisomy 18
Etiology
Clinical Features
Etiology
- Edwards syndrome
- female > males
- advanced materal age is a risk factor
Clinical Features
- pre and post natal growth retardation severely
- hypertonicty
Facial Findings
- microcephaly
- micrognathia
- cleft lip/palate
- upturned nose
- narrow palpebral fissure
- hypertelorism (distance between body parts)
- ptosis
Extremities
- overlapping fingers
- rocker bottom feet
heart defects (VSD, PDA)
intellectual disability
surviving kids die early in childhood
Klinefelter Syndrome
Etiology
Clinical Features
Etiology
- two copies of X chromosome in men
- an extra X copy
- not typically diagnosed until puberty becuase the symptoms dont show up until then
Clincial Features
- tall, thin with narrow shoulders
- small testicualr volume and small penis
- sparse pubic hair
- infertility
- gynecomastia
Abnormalities seen
- 5th fingere clinodactayly
- cleft papate
- cryptoorchism (failure of testis to fall)
- MVP
- scoliosis
- DM
- severe acne
Complications of Kleinfelter Syndrome
- risk of breast cancer is higher than normal men
- autoimmune disease risk = to that of females
- high risk of insulin resistnace
- increased mortality due to CVD
Turner Syndrome
etiology
Clinical Features
Etiology
- FEMALE only disease
- a loss of all or part of the X chromosomes
- classical is 45X
- 99% dont durvive past 28 weeks gestation
Clinical Features
- shrot stature
- webbed neck/excess nuchal skin
- epicanthal flds
- low posterior hairline
- sheild shape chest
- lymphedema in infants
Cardivasc.
- coratraction of aorta (common)
- hypertension
- aoric root dilation, bicuspid aortic valve
Dermatolig
- pigmented nevi
- deep set hyperconvex nails
hypothyroid
GU
- gondal dysgensis: delayed puberty
- streak ovaries: infertile
- horseshoe kidney
MSK
- short 4th metacarpals
- cubitus valgus
laerning difficulties, Hearing loss and staubsmus
Prader Willi Syndrome
Etiology
Etiology
- microdeletion of the proximal long arm of chromosome 15
- imprinting disoder leading to
- extreme hypotonia & failure to thrive
- childhood hyperplasia and obestiy
- unique behaviors and cognitive issues
clinical Features
Physically
- almon shaped eyes
- small mouth & thin upper lip
- small and narrow hands and feet
- fair skin and eyes and hair
- gential hypoplasia
- central obestiy and short stature
Other Featreus
- hyperphagia (3-4 years) leading to obesity
- hypotonia and feeing issues when young
- OSA & hip dysplasia
- scoliosos
- development/intellectual disabilities
- beahviroal: temper tantrums, OCD and stubborn
Angelman Syndrome
Etiology
Clinical Features
Etiology
- also on chromosome 15: imprinting error
- “happy puppet disease”
- characterisitc puppet like gait and freqeucnt laughter and smiles
- prgnathism
- widely spaced teeth
- tongue thrusting and seizures
Intellectual
- severe intellectual disability and langugage delay
- poor motor milestones and ASD
Fetal Alcohol Syndrome
Etiology
- mothers who excessively drink alcohol during pregnancy ( daily intake taking > 3oz)
Clinical Features
- short stature
- poor head growth (can be normal ath birth then just not grow)
- midface hypoplasia
- narrow palpebral fissure
- poorly developed filturm
- thin upper lip
- short nose
caridiac, GU and neurtal tube deffects
intellectual, learning and behavior issues are common
