multiple congenital abnormalities
Terms in this set (27)
variability in both normal and abnormal physical traits
Defects of organs or body parts due to an intrinsically abnormal developmental process.
Often occur in embryonic development (prior to week 8)
Result from genetic/environmental forces
Rare genetic disorder where patients have extra fingers and/or toes, with some fused together
mutations in homeobox HOXD13 gene
cavities of water in the brain due to large doses of vitamin A or retinoic acid during pregnancy
Metabolite of vitamin A
Abnormalities of positions of body parts due to extrinsic intrauterine mechanical forces.
Defects in organs or body parts due to disruption of or interference with normal development.
Amniotic Band Sequence (ABS)
Most common intrauterine disruption.
Group of structural anomalies mostly in limbs, but sometimes also in craniofacial region or trunk
Anomalies that occur as a result of abnormal organization of cells in tissues.
Unusual bone growth in skeletal dysplasias causes dwarfism.
Pattern of anomalies that occur together and are pathogenetically related.
swollen hands and feet
Tall stature, long arms, legs, fingers and toes, heart defects, and other symptoms
Autosomal dominant disorder resulting from mutation of FBN1 gene.
One X chromosome
Encodes fibrillin 1, a glycoprotein important for maintaining structural integrity of connective tissue.
Pattern of anomalies in which a single defect in development causes a cascade of subsequent abnormalities.
Caused by oligohydramnios secondary to renal anomalies (e.g. decreased fetal urine output)
Decreased amniotic fluid
Flat facies, depression of nasal tip, abnormal ear folding, wrinkled skin, and malposition of feet.
Incomplete development of lungs (often associated with Potter sequence).
Developmental field defect
Pattern of anomalies caused by disturbance of a region of the embryo that develops in a contiguous physical space.
Can range from almost absent fore-brain to milder manifestations such as a single central incisor
craniofacial structures also affected. Ex. of Developmental field defect.
Two or more anomalies that are NOT pathogenetically related, but occur together more often than expected by chance