[…] 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]

• 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]

• Disability

  Community Resources The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. [rarediseases.info.nih.gov]

• Pain

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

• Loose Elastic Skin

  Like people with other types of EDS, people with Spondylodysplastic EDS have unusually flexible joints; loose, elastic skin; and easy scarring. [rarediseases.info.nih.gov]

• Translucent Skin

  Features that are unique to this type include short stature ; bowing of the legs; weak muscle tone; sparse scalp hair and eyebrows; soft, doughy skin; and thin, translucent skin (which can cause the face to look older).[1] Additional symptoms may include [rarediseases.info.nih.gov]

• Thin Skin

  skin 0000963 30%-79% of people have these symptoms Abnormal facial shape Unusual facial appearance 0001999 Abnormality of skin pigmentation Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes [rarediseases.info.nih.gov]

• Low Set Ears

  ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Motor delay 0001270 Proptosis Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ] 0000520 Radioulnar [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]

• Bowing of The Long Bones

  […] of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Coxa valga 0002673 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Flat forehead Flattened forehead 0004425 Joint laxity Joint instability Lax joints Loose-jointedness [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]