ruijs-aalfs syndrome ruijs-aalfs syndrome ruijs-aalfs syndrome is a rare condition characterised by facial and skeletal abnormalities along with the development of hepatoma in the teenage years. ruijs-aalfs syndromeautosomal recessive pattern is the inheritance manner of this conditionspecialtymedical geneticscausesmutations in the sprtn gene signs and symptoms the main features of this condition are evident in skeleton and face facial features: triangular face small frontotemporal diameter small deep set eyes bulbous nose with high nasal bridge small upper lip micrognathia skeletal features: thoracic kyphoscoliosis sloping shoulders pectus excavatum elbow contractures clinodactyly pes planus delayed bone age other associated conditions: lipodystrophy simian creases all three patients developed liver cancer (hepatoma) in the teens. genetics this condition has been associated with mutations in the spartan gene (sprtn). this gene is located on the long arm of chromosome 1 (1q42.2). the gene sprtn encodes the dna dependent metalloprotease spartan. spartan is intimately involved in the repair of protein-linked dna breaks. pathopysiology this is not understood. diagnosis this syndrome may be suspected on clinical grounds. the diagnosis is established by sequencing the sprtn gene differential diagnosis werner syndrome treatment there is no specific treatment for this condition. management is supportive. epidemiology this condition is considered to be rare with only 3 cases reported in the literature. history this condition was first described in 2003.