Clinical Guidance
TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) was first reported in 1997 . It was noted that the clinical features of these individuals strongly resembled classic EDS (cEDS) because of hyperextensible skin and generalized hypermobility, with two key differences: (1) absence of atrophic scarring and (2) autosomal recessive inheritance. Due to the clinical resemblance with cEDS, updated nosology has renamed the condition classical-like EDS (clEDS) . Since the first publications, other features have been reported in individuals with clEDS that are more specific to clEDS . These are reflected in the minor criteria for clEDS and include broad feet and hands, brachydactyly, edema in the legs in the absence of cardiac failure, and predisposition to tissue fragility, particularly of the gastrointestinal tract . To date, 56 individuals from 44 families have been identified with TNXB-related clEDS [, , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. It is important to note that the majority of affected individuals were diagnosed in adulthood. Table 2. TNXB-Related Classical-Like Ehlers-Danlos Syndrome: Frequency of Select Features
