Ehlers-Danlos syndrome spondylodysplastic type 1

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,

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.

Signs and symptoms

• Short stature
• Hyperextensible skin
• Narrow mouth
• Proptosis
• Flat face
• Broad forehead
• Hypertelorism
• Craniosynostosis
• Low-set ears
• Blue sclerae