congenital anomalies and dysmorphic syndromes Flashcards
congenital anomaly
1) birth defect
- deviation from normal shape and structure from birth
congenital disease
1) deviation from function without / with congenital anomaly existing from birth
malformed conceptuses
1) spontaneous abortions 90%
2) diagnosed with congenital anomaly 2%
3) congenital anomaly at birth 8%
etiology of congenital anomalies
1) 65% both
2) 10% environment
3) genetic 25%
classes of congenital anomalies
1) malformation
2) deformation
3) disruptions
4) dysplasia
single non syndromic anomalies
1) only one type is specific dysmorphology present
multiple congenital anomalies
1) sequences
2) syndromes
3) associations
4) MCA
malformations
1) genetic and/or environmental
2) starts in initial phase of development => till birth
3) major and minor structural abnormalities attributed to faulty development presented at birth
deformation
environmental
2) normal development until birth => at end of embryonic period and end of fetal period => ends with anomaly
3) alterations in shape and position of a previously normally formed part
disruptions
environmental
2) normal development until fetal period => something disturbed it => end is anomaly
3) breakdown of previously normal tissue
dysplasia
genetic and/or environmental
1) starts normal => organization of stages and planning becomes disorganized => ends in anomaly
2) abnormal organization of tissue
bilateral clef and palate
1) 1/500-1000
2) cleft lip, palate, both, atypical facial cleft
neural tube defects
1) 1/1000 newborns
2) spinal bifida, anecephalous, encephalocoele, meningocoele, myelomeningocele, tethered spinal cord syndrome
club foot
1) all parts are there
2) deformation - environmental factors
torticollis with plagiocephaly
1) deformation of skull
2) treatment with helmets
amniotic band syndrome
1) constriction ring syndrome
2) disruption congenital anomaly
3) affected during fetal period
- may happen during infection to amnion
- movement of string circulates around limbs and fingers, and result in constrictions or amputation
atypical facial clefts
1) tessier clefts
2) swallowing amniotic bands, and can swallow part of face
3) corrected by plastic surgery
- no correlation in offspring
dysostosis cleidocranialis
1) AD condition (genetic)
2) dysplasia
3) missing clavicles, failure of bone resorption, delayed closing of fontanels
4) RUNX2 gene mutation
based on dysmorphology at birth
1) single
- only one anomaly
- clefts, NTDs, CHD, club foot
2) multiple C.A.
- sequences
- syndromes
- associations
- multiple congenital anomalies
sequences
1) pierre robin sequence
2) holoprocencephaly syndrome
symdromes
1) lip pits, popliteal pterygium sy
2) velocardiofacial sy, digeorge sy
3) ectodermal dysplasia
4) ectrodactyly
5) micrognathia
6) other rare sy
pierre robin sy
1) micro and retrognathic mandible
2) U shapes cleft palate
3) airway compromise
- management of airway means catchup growth
4) no genetic risk - deformation etiology
pierre robin sy
1) 25-50% sequence in syndromes
2)20% of syndromic cases is stickler syndrome
- hereditary progressive arthrophthalomopathy
3) AD mutations
4) appliance with speech valve
holoprocencephaly sequence
1) missing midline facial structures
- hypoterlorism
- missing centrals
- missing premaxilla
- missing nasal bones
2) incomplete division of forebrain into hemispheres
- alobar
- semi lobar
- lobar
- middle interhemispheric
3) most common structural malformation of the human forebrain
- AD and AR patterns
- 1/8000
lip pits (van der woude)
1) 1/35k - 100k
2) AD
3) lip pits in lower lip
4 )cleft lip and palate, cleft palate
5) mutations in the IRF6 gene
popliteal pterygium sy
1) popliteal pterygia
2) buccal synechia
3) syndactyly
4) genital malformation
5) anykloblepharon
6) has all VW sy features
velocardiofacial sy (digeorge)
1) long face, hypotonic
2) may have clefting
3) conotruncal cardiac anomalies (VSD)
4) learning disability
5) T lymphocyte dysfunction
6) 22q11.21 deletion
digeorge sy (catch 22 sy)
1) neonatal hypocalcemia
2) thymic hypoplasia
3) conotruncal cardiac defect
4) learning disability
5) micrognathia
6) short
7) hemizygous deletion 22q11.21
cardiac defect
abnormal facial feature
thymic hypoplasia
cleft palate
hypocalcemia
craniosynostosis syndromes
1) FGFR gene mutations
2) AD
3) midface hypoplasia
4) CP
apert syndrome
1) craniosynostosis
2) midface hypoplasia
3) CP
4) syndactyly of fingers and toes
crouzon sy
1) craniosynostosis
2) bulging eyes, exophthalmos
3) AD
rapp hodgkin sy
1) ectodermal dysplasia clefting syndrome
2) AD
hay wells (AEC) sy
1) AD
2) CL/P
3) ectodermal dysplasia –> hair, nails, teeth, skin
4) anyloblepharon filiforme anatum
5) hypospadia
margarita island ED
1) hairs, nails, teeth ,skin
2) clefting
3) syndactyly
4) dry skin
5) PVLR1 gene
6) AR, XD, AD
ectrodactyly - ED clefting sy
1) lobster claw syndrome
2) AD
3) always affect center ray - all extremities
4) ocular complications
5) clefting
6) other ectodermal dysplasia (Hair, skin, nails, teeth)
treacher collins
1) TCOF1 gene, treacle protein
2) AD
3) expressivity mild to severe
4) 1 and 2 branchial arch disturbance
5) mandible will never catch up in growth
oculo auriculo vertebral spectrum
1) goldenhar sy AD
2) hemfacial microsomia (E)
- disturbance of 2nd branchial arch
- deviation of midline
- malformation of ear
majewski sy
1) short ribs, preaxial polydactyly, midline cleft upper lip
teratogens
1) factor that has adverse effects on embryo or fetus
2) disease, drug, environmental agent
3) maternal disease
- rubella, toxoplasmosis, CMV
4) environment
- radiation, chemical, toxins
5) drugs
- alcohol, cigarettes, illicit drugs, thalidomide
fetal alcohol syndrome
1) hypotonic face
2) disturbance of brain function
- learning disability
- social issues
3) affected by epigenetics
- susceptibility genes of mother and fetus
