Cortical periventricular heterotopia with ectodermal dysplasia

Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

“…[17][18][19][20] In conclusion, we report this further case of an ED syndrome associated with a wide ranging defect, in which specific ED findings were subtle and intriguing as in several other cases previously described. [17][18][19][20] At present, it is not easy to hypothesise which type of gene/s could be involved in this novel and complex syndrome. Nevertheless, this further case makes stronger the idea that EDs are not a result of a general ''ectodermal'' abnormal defect, but more precisely, of systemic pathological conditions.…”

Hypertelorism, ptosis, and myopia associated with drug‐resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia

“…Like several other instances previously described [Zannolli et al, 2002a,b, 2003a,b,c], this could be a case of ED syndrome with a wide‐ranging defect, in which the specific ED symptoms are subtle and intriguing, very difficult to classify, and do not conform to previous clinical [Pinheiro and Freire‐Maia, 1994] or clinical–genetic categorizations [Priolo and Lagana, 2001].…”

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects

“…In addition, we observed other less specific abnormalities (e.g. mild hyperkeratosis and granular layer thickening), as previously reported in other cases of a CNS disease of unknown origin [1,3,6].…”

“…Various forms of ectodermal defects have recently been documented from subjects with central nervous system (CNS) impairment without any presumptive causes [1][2][3][4][5][6]. In rare cases, mental retardation associated with autism has been reported in association with other poorly classified ectodermal defects [4,7,8].…”