One family of 68 individuals over 5 generations was studied and the prevalence of disease among the family members suggests that it is indicative of dominant inheritance that is not sexually linked. This is supported by the fact that the disease failed to skip generations even in the absence of intermarriages and that disease incidence was independent of sex. The current findings suggest that the cause of the disease could be narrowed down to one enzymatic defect that is involved in the development of neuroectodermal tissue, however the exact molecular mechanisms are currently unknown. The other symptoms that arise such as bone defects and diabetes may be secondary to this enzymatic defect.
Flynn–Aird syndrome
Dennie–Marfan syndrome
McKittrick-Wheelock syndrome
Koolen–De Vries syndrome
Kearns–Sayre syndrome
Fox–Fordyce disease
McLeod syndrome
GRACILE syndrome