[…] intellectual disability, and pes planus.[2][3] Spondylodysplastic EDS may be caused by mutations in the B4GALT7gene, the B3GALT6, or the SLC39A13 gene.[3] It isinherited in an autosomal recessive pattern.[4] Treatment depends on the symptoms that are present [rarediseases.info.nih.gov]

• Developmental Delay

  0000028 Cutis laxa Loose and inelastic skin 0000973 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flexion contracture Flexed joint that cannot be straightened 0001371 Gingivitis Inflamed gums Red and swollen gums [ more ] 0000230 Global developmental [rarediseases.info.nih.gov]

• Short Stature

  Last updated: 3/20/2018 Symptoms Symptoms Common symptoms of spondylodysplastic Ehlers-Danlos syndrome include:[5][1][6][2][3] Progressive short stature in childhood, which can result in short stature as an adult (less than 152cm) Poor muscle tone (hypotonia [rarediseases.info.nih.gov]

• Pain

  People with joint pain might benefit from anti-inflammatory medications. [rarediseases.info.nih.gov]

• Weakness

  […] bone weakness, weak muscle tone, mild intellectual disability, and pes planus.[2][3] Spondylodysplastic EDS may be caused by mutations in the B4GALT7gene, the B3GALT6, or the SLC39A13 gene.[3] It isinherited in an autosomal recessive pattern.[4] Treatment [rarediseases.info.nih.gov]

• Abnormal Teeth

  […] of primary teeth Abnormality of baby teeth Abnormality of milk teeth [ more ] 0006481 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Kyphoscoliosis 0002751 Mild [rarediseases.info.nih.gov]

• Osteopenia

  […] present from birth, to mild and later-onset Bowing of limbs Other symptoms include:[3][5] Skin hyperextensibility; soft, doughy skin; thin, translucent skin Pes planus (flat feet) Delayed motor development Fragile bones from low bone mineral density (osteopenia [rarediseases.info.nih.gov]

• Hypertelorism

  […] radial head 0003083 Flared metaphysis Flared wide portion of long bone 0003015 Flat face Flat facial shape 0012368 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Hypertelorism [rarediseases.info.nih.gov]

Treatment Treatment People with spondylodysplastic Ehlers-Danlos syndrome can benefit from a variety of treatments depending on their symptoms. [rarediseases.info.nih.gov]