Ehlers-Danlos syndrome classic-like 2

Term ID

DOID:0080732

Synonyms

Definition

An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• OMIM:618000

Ontology

Human Disease   ( DOID:0080732 )