Diagnostic Criteria

No consensus clinical diagnostic criteria for musculocontractural Ehlers-Danlos syndrome (mcEDS) have been published.

Suggestive Findings

Musculocontractural EDS should be suspected in probands with two major criteria; the presence of any additional minor criteria supports the diagnosis .

Major criteria

Source: GeneReviews — "Musculocontractural Ehlers-Danlos Syndrome"

Differential Diagnosis

In newborns and young infants with characteristic craniofacial features and multiple congenital contractures, the differential diagnosis of musculocontractural Ehlers-Danlos syndrome (mcEDS) includes arthrogryposis syndromes (e.g., Freeman-Sheldon syndrome) and some hereditary connective tissue disorders (e.g., Loeys-Dietz syndrome, early-onset Marfan syndrome, spondylodysplastic EDS, kyphoscoliosis EDS , and Shprintzen-Goldberg syndrome ). In individuals with joint hypermobility/dislocation, skin hyperextensibility, and easy bruisability, the differential diagnosis of mcEDS includes other types of EDS. Typically joint hypermobility in individuals with mcEDS is limited to small joints, whereas generalized joint hypermobility is a hallmark of classic EDS and hypermobile EDS. Table 3. Genes of Interest in the Differential Diagnosis of Musculocontractural Ehlers-Danlos Syndrome

Management Guidelines

Health care guidelines for musculocontractural Ehlers-Danlos syndrome (mcEDS) have been proposed . The following recommendations are based on these reports and the authors' personal experience managing individuals with mcEDS.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with mcEDS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

Musculocontractural Ehlers-Danlos Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Skeletal

| Orthopedic eval w/radiographs as needed | To assess for congenital contractures foot, spine, pectus deformities

Ocular

| Ophthalmologic eval incl slit lamp fundus exam | To assess for refractive errors strabismus

Genitourinary

| • Assessment for cryptorchidism in males

• Kidney US for hydronephrosis

|

Cardiovascular

| Cardiology eval for valve abnormality congenital heart defect |

Neurologic

| • Assessment of tone motor development

• Cranial US, followed by brain MRI as needed

|

Gastrointestinal

| Assessment for constipation inguinal umbilical hernias |

Hearing

| Audiology eval (ABR, ASSR) |

Cleft palate

| Clinical exam to assess for cleft palate cleft soft palate |

Genetic counseling

| By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of mcEDS to facilitate medical personal decision making

Family social issues

| Social support and re...

Source: GeneReviews — "Musculocontractural Ehlers-Danlos Syndrome"

Clinical Guidance

Avoid the following:

• Contact or competitive sports

• Upper arm sphygmomanometer and use of a tight tourniquet during blood collection in individuals with hyperalgesia to pressure

Source: GeneReviews — "Musculocontractural Ehlers-Danlos Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Musculocontractural Ehlers-Danlos Syndrome"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Musculocontractural Ehlers-Danlos Syndrome: Recommended Surveillance

Source: GeneReviews — "Musculocontractural Ehlers-Danlos Syndrome"