Ruijs-Aalfs syndrome is a rare condition characterised by facial and skeletal abnormalities along with the development of

hepatoma Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide. It occurs in t ...

in the teenage years.

Signs and symptoms

The main features of this condition are evident in skeleton and faceLessel D, Vaz, B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera, E, Freire R, ''et al'' (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet. 46: 1239-1244 Facial features: * Triangular face * Small frontotemporal diameter * Small deep set eyes * Bulbous nose with high nasal bridge * Small upper lip *

Micrognathia Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnorm ...

Skeletal features: * Thoracic

kyphoscoliosis Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of ...

* Sloping shoulders * Pectus excavatum * Elbow contractures *

Clinodactyly Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common iso ...

Pes planus Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground. Sometimes children are born ...

* 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.Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. . Epub 2019 Jul 8. Review.

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.Ruijs MWG, van Andel RNJ, Oshima J, Madan K, Nieuwint AWM, Aalfs CM (2003) Atypical progeroid syndrome: an unknown helicase gene defect? Am J Med Genet 116A: 295-299

References

{{Reflist Genetic syndromes Rare syndromes Autosomal recessive disorders