Hall-Riggs Syndrome

Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.

Epidemiology

Eight cases have been reported in the literature in two unrelated families.

Clinical description

Dysmorphic features include hypertelorism, depressed nasal bridge, large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability.

Genetic counseling

The condition is probably hereditary, and transmitted as an autosomal recessive trait.