Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis (SSASKS)

Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis (SSASKS)

OMIM number: 618363

Comments closing date: 13/08/2025

Short stature, amelogenesis imperfecta, and
skeletal dysplasia with scoliosis (SSASKS) is a
rare hereditary (genetic) condition which primarily
causes short stature, bone abnormalities and tooth
anomalies. It is caused by an alteration (also
called “pathogenic variant”) in both copies of gene
called SLC10A7. The SLC10A7 gene is thought to
have several important roles in cells throughout
the body, including bone and teeth development.
Individuals with SSASKS are typically found to
have short stature from before birth and multiple
bone abnormalities, including dislocation of large
joints, chest deformities and severe curvature of
the spine in some individuals. The condition also
causes distinctive facial features, and teeth
anomalies including rough, yellow-brown enamel
and short, widely spaced tooth crowns, and can be
associated with hearing problems and mild
learning difficulties. People born with this condition
can have variable features, but unfortunately, all
are expected to be significantly impacted by the
condition. Babies born with chest deformities can
experience life-threatening breathing difficulties at
birth and other features of the condition can cause
significant disability. There is no cure for this
condition—each symptom is treated on its merits.
However, even with treatments, the condition can
still significantly affect the quality of life.

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