[5] Disease can be inherited as an autosomal dominant trait, however most cases of CSS appear to be the result of a de novo mutation.

[9] The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the causative genes.

Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding.

[9] Typically, lab work will be done to rule out other conditions and genetic testing will also be performed to get the official diagnosis.

Treatment is based on symptoms and may include physical, occupational and speech therapy and educational services as well.