Saint Joseph's Pediatric Dentistry Lit Review

Definition: Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to the group of diseases known as ect...

Definition: Lesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Etiology: inherited as...

Treacher-Collins syndrome is a genetic condition characterized by a defective protein called treacle, which affects the development of bones...

Definition: Sturge-Weber Syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial hamartomatous vescular proliferation main...

The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that m...

Definition: An autosomal dominant disorder of the connective tissue. MFS features can occur in many different parts of the body. Etiology: D...

Syndrome: Beckwith Wiedemann Syndrome Etiology: Congenital overgrowth disorder that is caused by a sporadic genetic mutation in 85% of case...

Syndrome: De Lange Syndrome (Cornelia de Lange Syndrome) Etiology: Genetic disorder that can lead to serious developmental anomalies, affec...

Definition : 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates...

Other names: Broad thumb-hallux syndrome or Rubinstein syndrome Definition : Condition characterized by short stature , moderate to sev...