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Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high‐arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high‐resolution comparative genomic hybridization and SEPT9, SHH mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach–Rott syndrome. © 2009 Wiley‐Liss, Inc.