Table 4.

Ehlers-Danlos Syndrome-Related Genes of Interest in the Differential Diagnosis of Classic Ehlers-Danlos Syndrome

Gene(s)DisorderMOIClinical Features of Disorder
Overlapping w/cEDSDistinguishing from cEDS
ADAMTS2 Dermatosparaxis EDS (OMIM 225410)AR
  • Atrophic scarring
  • Easy bruising
  • GJH
  • Skin hyperextensibility
  • Soft, doughy skin
  • Extreme skin fragility (usually > than in cEDS)
  • Redundant, almost lax, skin
  • Unusual craniofacial features
  • Postnatal growth restriction
AEBP1 Classic-like EDS type 2 (OMIM 618000)AR
  • Atrophic scarring
  • Easy bruising
  • GJH
  • Skin hyperextensibility
  • Prematurely aged appearance
  • Thinning of hair or (partial) alopecia
COL1A1
COL1A2 		Arthrochalasia EDS (OMIM 130060, 617821)AD
  • Atrophic scarring
  • Easy bruising
  • GJH
  • Skin hyperextensibility
Bilateral congenital hip dislocation
COL1A2 Cardiac valvular EDS (OMIM 225320)AR
  • Atrophic scarring
  • Easy bruising
  • (Generalized) joint hypermobility
  • Skin hyperextensibility
Severe progressive cardiac valvular problems
COL3A1 1Vascular EDS 1AD
  • Atrophic scarring
  • Easy bruising
  • GJH
  • Skin hyperextensibility
  • Doughy skin
  • Gastrointestinal rupture
  • Pneumothorax
  • Severe hematoma formation, incl muscle hematoma
FKBP14 FKBP14-related kyphoscoliotic EDS AR
  • Easy bruising
  • GJH
  • Skin hyperextensibility
  • Congenital muscle hypotonia
  • Muscle atrophy
  • Congenital hearing impairment
PLOD1 PLOD1-related kyphoscoliotic EDS AR
  • Atrophic scarring
  • Easy bruising
  • GJH
  • Skin hyperextensibility
Congenital muscle hypotonia
TNXB TNXB-related classic-like EDS AR
  • Easy bruising
  • GJH
  • Skin hyperextensibilityy
  • Velvety skin
Absence of atrophic scarring

AD = autosomal dominant; AR = autosomal recessive; cEDS = classic Ehlers-Danlos syndrome; EDS = Ehlers-Danlos syndrome; GJH = generalized joint hypermobility; MOI = mode of inheritance

1.

Glutamic acid to lysine substitutions in COL3A1 have been reported in individuals with features of both vascular EDS and cEDS [Ghali et al 2019].

From: Classic Ehlers-Danlos Syndrome

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