Classical-like EDS (clEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [16]

INHERITANCE PATTERN: Autosomal Recessive

Much like cEDS, clEDS is characterized by hypermobile joints, hyperextensible skin, easy bruising, and soft, velvety skin. However, it does not create atrophic scarring, as seen in cEDS. There are other features of clEDS that are not usually seen in cEDS, including foot and hand deformities, such as piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogeric (premature aging) of the skin of hands, and osteoporosis of the hips [17]. Symptoms may also include muscle weakness, myalgia (pain) and atrophy (wasting), hiatal hernia (protrusion of part of the stomach through the diaphragm in the chest cavity), high, narrow palate, scoliosis, hypotonia, and delayed motor skills. People with clEDS may experience severe fatigue, as well, due to hypermobility of joints and other complications.

DIAGNOSTIC CRITERIA [18]:

To diagnose clEDS, the following formula must be satisfied:

Major Criterion #1, #2, #3 + Positive Autosomal Recessive Family History

All three of the major criteria must be met, along with a positive family history that’s indicative of an inherited autosomal recessive pattern of transmission. Molecular genetic testing is then performed to confirm the diagnosis. clEDS is often referred to as the TNXB-related classical EDS because the genetic mutation responsible for this disorder is found in the TNXB gene.

The major and minor criteria and genetic markers responsible for clEDS can be found in the chart below.

Major Diagnostic Criteria

  1. Skin hyperextensibility, with velvety skin texture and absence of atrophic scarring
  2. GJH with or without recurrent dislocations (most commonly shoulder and ankle)
  3. Easily bruised skin/spontaneous ecchymoses

Minor Diagnostic Criteria

  1. Foot deformities: broad/plump forefoot, brachydactyly with excessive skin; pes planus; hallux valgus; piezogenic papules.
  2. Edema in the legs in absence of cardiac failure
  3. Mild proximal and distal muscle weakness
  4. Axonal polyneuropathy
  5. Atrophy of muscles in hands and feet
  6. Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly
  7. Vaginal/uterus/rectal prolapse

Genetic Markers:

TNXB