Ehlers-Danlos Syndrome
Types
a) Classical
Inheritance- AD
Major features
- Skin hyperextensibility
- Widened atrophic scars
- Joint hypermobility
Minor features
- Smooth velvety skin
- Molluscoid pseudotumors
- Subcutaneous spheroids
- Complications of joint hypermobility (sprains, subluxations/dislocations, pes planus)
- Muscle hypotonia
- Delayed gross motor development
- Easy bruising
- Tissue extensibility and fragility
- Postoperative hernia
- Positive family history
2) Hypermobility
Inheritance- AD
Major features
- Skin involvement (hyperextensibility and/or smooth, velvety skin)
- Generalised joint hypermobility
Minor features
- Recurring joint dislocations
- Chronic joint/limb pain
- Positive family history
3) Vascular
Inheritance- AD
Major features
- Thin, translucent skin
- Arterial/intestinal/uterine fragility or rupture
- Extensive bruising
- Characteristic facial appearance
Minor features
- Acrogeria
- Hypermobility of small joints
- Tendon and muscle rupture
- Talipes equinovarus
- Early onset varicose veins
- Arteriovenous, carotid-cavernous sinus fistula
- Pneumothorax/ Pneumohemothorax
- Gingival recession
- Positive family history
- Sudden death in close relatives
4) Kyphoscoliotic
Inheritance- AR
Major features
- Generalised joint laxity
- Severe muscle hypotonia at birth
- Scoliosis at birth, progressive
- Scleral fragility and rupture of the ocular globe
Minor features
- Tissue fragility, including atrophic scars
- Easy bruising
- Arterial rupture
- Marfan-like habitus
- Microcornea
- Osteopenia
- Family history
5 ) Arthrochalasia
Inheritance- AD
Major features
- Severe generalised joint hypermobility with recurrent subluxations
- Congenital hip dislocation
Minor features
- Skin hyperextensibility
- Tissue fragility, including atrophic scars
- Easy bruising
- Muscle hypotonia
- Kyphoscoliosis
- Radiologically mild osteopenia
6) Dermatosparaxis
Inheritance- AR
Major criteria
- Severe skin fragility
- Sagging, redundant skin