| Ruijs-Aalfs syndrome | |
|---|---|
 | |
| Autosomal recessive pattern is the inheritance manner of this condition | |
| Specialty | Medical genetics |
| Causes | Mutations in the SPRTN gene |
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:
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
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.