Rosselli-Gulienetti syndrome
A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene
MONDO:0007124
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
is_a
Rosselli-Gulienetti syndrome
exact