Ehlers-Danlos syndrome spondylodysplastic type 1

Term ID

DOID:0080738

Synonyms

Definition

An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/23956117/

References

• MIM:130070

Ontology

Human Disease   ( DOID:0080738 )