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.

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 in the teens.

Genetics

This condition has been associated with mutations in the Spartan gene. This gene is located on the long arm of chromosome 1. 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.