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
Feature | % of Personsw/Feature1 | Comment |
|---|
Hyperextensible skin | 100% | — |
Joint hypermobility | 100% | W/or w/o recurrent joint (sub)luxations |
Easy bruising | 91% | Likely 100%, as not all reports commented on this feature |
Also incl hematomas/ecchymoses Foot abnormalities (≥1)2 | 81% | Most specific: broad foot w/brachydactyly |
Most common: pes planus Complaints of fatigue | 53% | — |
Subjective muscle weakness | 37% | — |
Vascular fragility | 27% | 3/56 persons (5%) experienced major medical events due to vascular fragility. |
Edema in legs in absence of cardiac failure | 25% | — |
Vaginal/uterus/rectal prolapse | 21% | — |
Hand anomalies | 20% | Only brachydactyly was considered. |
Gastrointestinal fragility | 16% | Incl esophageal, small bowel, /or large bowel ruptures |
Axonal polyneuropathy | 14% | Feature was not investigated in the cohort of 20 persons. |
Other fragility | 4% | Trachea rupture after intubation |
Defect of nasal cartilages after nose blowing Atrophy of muscles in hands feet | 4% | Feature was not investigated in the cohort of 20 persons. Not all reports commented on all the clinical features mentioned above. When not commented on, the feature was considered absent. |
Source: GeneReviews — "TNXB-Related Classical-Like Ehlers-Danlos Syndrome"
