Classical-like Ehlers-Danlos syndrome type 2
Synonyms: AEBP1-related EDS | AEBP1-related Ehlers-Danlos syndrome | Classical-like EDS type 2 | clEDS type 2
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations redundant and hyperextensible skin with poor wound healing and abnormal scarring easy bruising and osteopenia/osteoporosis. Additional manifestations include hypotonia delayed motor development foot deformities prominent superficial veins in the chest region vascular complications (like mitral valve prolapse and aortic root dilation) hernias dental anomalies scoliosis and facial dysmorphisms (like high palate micrognathia narrow palate). Mode of inheritance is autosomal recessive.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Classical-like Ehlers-Danlos syndrome type 2?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Ehlers-Danlos Society
The Ehlers-Danlos Society is dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). We support the development of effective and equitable EDS and HSD therapies and work collaboratively to improve the lives of individuals affected by EDS and HSD.
Pathways To Trust
To elevate the patient's voice to increase access to care and eliminate bias by bringing stakeholders together.
Zebra CARE Initiative
To bring Charity, Access, Research, and Education (CARE) through and beyond the rare disease, disabled, and medically complex communities for a more inclusive and accessible medical system.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Ehlers-Danlos Syndromes New Zealand
Our Mission is to improve the wellbeing of those with Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders in Aotearoa New Zealand by raising awareness, improving knowledge by health professionals and providing support to patients.
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.