Spondylocheirodysplasia, Ehlers-Danlos Syndrome-like (SCD-EDS) is a very rare condition. SCD-EDS causes development and bone growth problems. SCD-EDS causes slow growth in the time after birth. Someone with SCD-EDS will be shorter than most other people. SCD-EDS causes bulging (big) eyes. The whites of the eyes will be blue-ish.
SCD-EDS will cause development problems in the hands. The palms of the hands will be finely wrinkled. The fingers will be tapered. This means that the tips will be much smaller than the rest of the fingers. SCD-EDS also causes atrophy of the thenar muscle (the muscle in the palm beneath the thumb). This means that the thenar muscle will not be as strong as it should be.
SCD-EDS causes hyperelastic skin. This means the skin will be very stretchy. Someone with SCD-EDS will have hypermobile small joints. The joints are places where two bones come together. This means that someone with SCD-EDS will be able to move their joints further than most other people. SCD-EDS also causes bone growth problems in the femur. The femur is the large bone in the thigh.
SCD-EDS is passed down from parents to their children through genes. Genes act as an instruction manual for the body. Genes are made up of DNA. DNA is a “code” made up of small parts called nucleotides. A gene mutation is when one or more nucleotides in the DNA “code” that makes up a gene is changed. SCD-EDS is caused by a mutation in the SLC39A13 gene. SCD-EDS is inherited in an autosomal recessive pattern. This means that both parents pass a mutation in the SLC39A13 gene down to their child in order for the child to have SCD-EDS.
If you or a family member has been diagnosed with SCD-EDS, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.