Buttiens Fryns syndrome
Overview
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known
Diagnosis
The diagnosis is based on the presence of the clinical manifestations. There is no specific diagnostic test available. Additional investigations are required to rule out a differential diagnosis and should include a cardiac examination and ultrasound, ophthalmologic examination, chromosomal analysis with special attention for chromosome 5pter (FISH-studies) and 22q11 (FISH-studies), and biochemical analysis of aminoacids in plasma and urine.
Treatment
There is no specific treatment for this condition. Attention should be given to prevent severe scoliosis and progressive orthopaedic problems. Patients with cardiac problems or epileptic seizures should be examined on a regular basis. Patients need special education and psychological follow-up with comprehensive neuropsychological evaluation. Special attention should be given to prevent aggressive outbursts and to diagnose early psychiatric disorders, such as psychosis.