The basic process of morphogenesis is genetically controlled. However, the ability of an individual to reach his or her genetic potential with respect to structure, growth, or cognitive development is affected by environmental factors in both prenatal and postnatal life.…
VACTERL Association An association is a term used to designate the nonrandom tendency of some malformations to occur together more commonly than would be expected by chance, without being components of a syndrome. VACTERL is an acronym that stands for…
Oculo-Auriculo-Vertebral Spectrum (First and Second Branchial Arch Syndrome, Facio-Auriculo-Vertebral Spectrum, Hemifacial Microsomia, Goldenhar Syndrome) The predominant defects in this spectrum represent problems in morphogenesis of the first and second branchial arches, sometimes accompanied by vertebral anomalies, renal defects, or ocular…
Laterality Sequences In addition to reversal of the sides, with partial to complete situs inversus, there can be bilateral left- or right-sidedness. The primary defect in both is a failure of normal asymmetry in morphogenesis. The basic problem would presumably…
Coffin-Siris Syndrome Hypoplastic to Absent Fifth Finger and Toenails, Coarse Facies Coffin and Siris reported three patients with this disorder in 1970. Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome are the most recognizable BAFopathies. The causal genes affecting chromatin remodeling…
Fetal Alcohol Spectrum Disorders Prenatal Onset of Growth Deficiency, Microcephaly, Short Palpebral Fissures In 1968, Lemoine of Nantes, France, recognized the multiple effects that alcohol can have on the developing fetus. Lemoine’s report was not well accepted, and the disorder…
Hypohidrotic Ectodermal Dysplasia Defect in Sweating, Alopecia, Hypodontia There are a number of ectodermal dysplasia (ED) syndromes, only a few of which are represented in this text. The division into hypohidrotic ectodermal dysplasia (HED) and hidrotic categories based on the…
Sturge-Weber Syndrome Flat Facial Hemangiomata, Meningeal Hemangiomata with Seizures The association and localization of aberrant vasculature in the facial skin, eyes, and meninges are compatible with a defect arising in a limited part of the cephalic neural crest, cells of…
Marfan Syndrome Arachnodactyly with Hyperextensibility, Lens Subluxation, Aortic Dilatation Described as dolichostenomelia in the initial report by Marfan, this disorder was extensively studied and recognized as an autosomal dominant connective tissue disorder by McKusick. In 2010, an international expert panel…
Mucolipidosis II (Leroy I-Cell disease) Early Alveolar Ridge Hypertrophy, Joint Limitation, Thick Tight Skin in Early Infancy This disorder was recognized by Leroy and DeMars when they noted unusual cytoplasmic inclusions in the cultured fibroblasts of a girl considered to…