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 

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