Ehlers-Danlos Syndrome EDS

Type I collagen mutations associated with osteogenesis imperfecta Dentinogenesis imperfecta type I (see also Chap. 9) Opalescent blue-gray or yellow-brown teeth because of abnormal dentin calcification 

Unknown genes on chromosome 12 Ehlers-Danlos syndrome - type VIII Aggressive periodontal disease 

Laminin-5 (Chap. 5) Junctional epidermolysis bullosa Generalized enamel hypoplasia increased caries 

Fibrillin-1 and -2 (Chap. 6) Marfan syndrome Crowded incompletely developed (hypoplastic) teeth and deformities of the 

Dentin sialophosphoprotein (DSPP), a glycoprotein of the connective tissue stroma (Chap. 9) Dentinogenesis imperfecta type II Changes resemble type I dentinogenesis imperfecta (Chap. 9) 

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More than 100 mutations of the COL3A1 gene can cause Ehlers-Danlos syndrome (EDS) type IV, an autosomal dominant disorder characterized by joint and dermal manifestations similar to the other forms of the syndrome, but in addition these individuals are prone to spontaneous ruptures of bowel and large arteries. 

Defects in collagen synthesis, structure, or assembly Into fibers are the principal basis for a group of connective tissue disorders called Ehlers-Danlos syndrome (EDS). 

Other mutations of fibrillar collagen, or mutations that affect collagen-processing, cause Ehlers-Danlos syndrome (EDS), a group of heritable connective tissue disorders causing skin hyperextensibility, articular hypermobility, and tissue fragility. The 3 major types are classic (EDS-I and EDS-II), hypermobility (EDS-III) and vascular (EDS-IV). 

I [al(l)]2a2 ct 1(1)3 Bone, Tendon, Skin, Dentin, Fascia, Arteries Osteogensis Imperfacta (01) and Ehlers-Danlos Syndrome (EDS). Both syndromes are clinically heterogeneous due to genetic defects that affect the biosynthesis, assembly, postranslational modification, secretion, fibrillogenesis, or other extracellular matrix components. 

Steinmann B (1993) Occipital Horn Syndrome, formerly Ehlers-Danlos syndrome type IX, in Connective Tissue and its Heritable Disorders (eds P.M. Royce and B. Steinmann), Wiley-Liss, New York, pp 386-387. 

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