Giacheti Syndrome

Clinical Features

Giacheti et al. (2007) reported a Brazilian family in which a mother and her 2 daughters had a marfanoid habitus and a specific pattern of language and learning disabilities. All had tall stature, high forehead, long face, hypotelorism, long thin nose, and thin hands and feet. Neuropsychologic development and language acquisition were delayed; intelligence testing showed scores within the normal range, but the authors stated that 'complementary evaluations showed impairment in visual and auditory cues and a mild deficit in comprehension.' The parents were not related.

Inheritance

Giacheti et al. (2007) suggested autosomal dominant inheritance for this disorder based on the finding of 3 affected females in 2 generations, but noted that X-linked dominant inheritance with reduced or absent male expression could not be ruled out.