Neurological features reported as part of the major (+M) or minor criteria (+m) defined for the current EDS types (8)
| EDS types | Rare | Ultra-rare | |||||||||
| cEDS | vEDS* | kEDS | aEDS | BCS | clEDS 1 | clEDS 2 | mEDS | mcEDS | pEDS | spEDS | |
| Inheritance | AD | AD | AR | AD | AR | AR | AR | AD/AR | AR | AR | AR |
| Gene | COL5A1 COL5A2 COL1A1 | COL3A1 | PLOD1 FKBP14 | COL1A1 COL1A2 | ZNF469 PRDM5 | TNXB | AEBP1 | COL12A1 |
CHST14
DSE | C1R/ C1S | B4GALT7† B3GALT6† SLC39A13† |
| Prevalence | 1:20 000 | 1:90 000 | 1:100 000 | <1:106 | <1:106 | <1:106 | <1:106 | <1:106 | <1:106 | <1:106 | <1:106 |
| (Congenital) hypotonia | +M | +m | +m (hypotonia in infancy (usually mild) | +M | +M | ||||||
| (Congenital) contractures | Talipes+m | +M proximal | +M | ||||||||
| Delayed motor development | +1 | +1 | +m | +1 | +m | ||||||
| Delayed cognitive development | – | +m | |||||||||
| White matter abnormalities | – | +2 | |||||||||
| Mild proximal and distal weakness | +m | ||||||||||
| Other | 1)Stroke due to dissection of cervical arteries 2)Spontaneous CCSF | Axonal Polyneuropathy (+m) & muscle atrophy hands and feet (+m) | Myopathy on muscle biopsy (+m) | ||||||||
No neurological features reported as part of the major or minor diagnostic criteria in cvEDS, dEDS and hEDS.
+1: resulting from (congenital) hypotonia. +2: present in large majority of patients who head imaging of the head.
*Rarely, specific Arg>Cys variants in the COL1A1 gene have been reported to cause vEDS.
†Gene specific criteria are in place for this condition.
aEDS, arthrochalasia EDS; BCS, brittle cornea syndrome; CCSF, carotid-cavernous sinus fistula; cEDS, classical EDS; clEDS 1 and 2, classical-like EDS type 1 and 2; cvEDS, cardiac-valvular EDS; dEDS, dermatosparaxis EDS; hEDS, hypermobile EDS; kEDS, kyphoscoliotic EDS; mcEDS, musculocontractural EDS; mEDS, myopathic EDS; pEDS, periodontal EDS; spEDS, spondylodysplastic EDS; vEDS, vascular EDS.