Rare Disease Library

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

Atypical Werner syndrome

Atypical progeroid syndrome

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

Cardiac-valvular Ehlers-Danlos syndrome

Cardiac-valvular EDS · cvEDS

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C

Ehlers-Danlos syndrome

EDS

Ehlers-Danlos syndrome with periventricular heterotopia

EDS with periventricular heterotopia · Filamin A-related EDS with periventricular nodular heterotopia

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Fontaine progeroid syndrome

Genetic progeroid syndrome

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

OBSOLETE: Ehlers-Danlos syndrome type 1

OBSOLETE: EDS I

OBSOLETE: Ehlers-Danlos syndrome type 2

OBSOLETE: EDS II

OBSOLETE: Ehlers-Danlos syndrome type 7A

OBSOLETE: EDS VIIA

OBSOLETE: Ehlers-Danlos syndrome type 7B

OBSOLETE: EDS VIIB

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality · OBSOLETE: EDS X

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 2

Pitt-Rogers-Danks syndrome

Intellectual disability-dysmorphism-intrauterine growth retardation syndrome

Progeroid syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

Stickler syndrome type 2

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5