Terms
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| Dysmorphology | Study of atypical anatomical development or morphogenetic, resulting in abnormal physical features
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| Malformation | Structural defect in an organ or body part due to abnormal development process (cleft palate, polydactyly)
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| Dysphagia | Abnormal organization of cells into tissues and the structural consequences (hemangioma, limb defect)
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| Deformation | Alteration in the form, shape, or position of a normally formed body part by mechanical forces in the fetal period (not embryogenesis) and can be due to intrinsic or extrinsic forces. (plagiocephaly, internal tib rotation)
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| Homozygous | Same allele on both chromosome pairs
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| Heterozygous | Different alleles on each chromosome
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| Genotype | Persons alleles and precise genetic makeup at a specific locus
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| Phenotype | The physical manifestation of the genotype (the genotype and phenotype donta always agree)
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| Polymorphism | Alteration not causing a disease
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| Mutation | Genetic alteration that causes a disease
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| Dominant disease | Singlemcopy of a mutation so that heterozygotes will be affected
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| Haploisufficiency | Occurs in dominant disorders when there is a 50% reduction in a protein and then causes a loss of function disease
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| Recessive genetic disorders | Requires both copies of the allele to be mutated
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| Craniosynostosis | Caused by abnormal differentiation of neural crest cells and has now been associated with nearly 100 syndromes.
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| Chromosomal abnormalities | Chrom # or structure is altered. Cause genetic disordered. In general not hereditary.
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| Mosaic trisomy | Full trisomy conception followed by loss of extra chromosome in some cells during mitosis of embryo. Clinical manifestations are then mild.
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