Module 3 Extra Curricular Flashcards
What are the symptoms of Ehlers-Danlos type 1 and 2 (classical)
Skin and joint hypermobility
Atrophic scars
Easy bruising
What are the symptoms of Ehlers-Danlos type 6 (ocular or kyphoscoliosis)
Hypotonia
Joint laxity
Congenital scoliosis
Ocular fragility
What are the symptoms of Ehlers-Danlos type 7a and 7b (anthrochalasia)
Severe joint hypermobility
Mild skin deformities
Scoliosis
Bruising
What are the symptoms of Ehlers-Danlos type 7c (dermatosparaxis)
Severe skin fragility
Cutis laxa (loose skin)
Occipital horn syndrome
What are the symptoms of Ehlers-Danlos type 4 (arterial or vascular)
Thin skin
Arterial or uterine rupture
Bruising
Small joint hyperextensibility
What are the symptoms of Ehlers-Danlos type 3
Joint hypermobility
Pain
Dislocations
What causes Ehlers-Danlos syndrome type 7c (dermatosparaxis)
Autosomal recessive mutation in procollagen N-peptidase
What causes Ehlers-Danlos syndrome type 7a and 7b (anthrochalasia)
Autosomal dominant mutations in COL1A1 and COL1A2
What causes Ehlers-Danlos syndrome type 6 (ocular or kyphoscoliosis)
Autosomal recessive mutation in PLOD1 causing lysyl hydroxylase deficiency
What causes Ehlers-Danlos syndrome type 4 (arterial or vascular)
Autosomal dominant mutation in COL3A1
What causes Ehlers-Danlos syndrome type 3
Autosomal dominant mutation in currently unknown gene
What causes Ehlers-Danlos syndrome type 1 and 2 (classical)
Autosomal dominant mutations of COL5A1 and COL5A2
What causes Lobstein type 4
Short pro-α2
Symptoms of Lobstein type 3
Progressive deformities
Growth retardation
Multiple fractures
Progressive kyphoscoliosis
*Compatible with survival
Symptoms of Lobstein type 4
Moderate fragile bones
Short stature
Postnatal fractures
Normal sclera
*Compatible with survival
