The easiest way to test for this condition is through genetic testing. Several methods can be used for genetic testing that can help identity this condition, * Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify mutations and variations that can help lead to a genetic disorder. * Chromosomal genetic tests help investigate whole chromosomes or long lengths of DNA to see if there are bigger genetic changes, for example, an extra copy of a chromosome that can help cause a genetic condition. * Biochemical genetic tests study the activity level and amount level of proteins; abnormalities in either can indicate changes to the DNA and result in a genetic disorder.
Sabinas brittle hair syndrome
Ring chromosome 20 syndrome
Wilson–Turner syndrome
Clouston's hidrotic ectodermal dysplasia
Carey Fineman Ziter syndrome
Yemenite deaf-blind hypopigmentation syndrome
Smith–Magenis syndrome
Daentl Townsend Siegel syndrome