Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
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. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders.
Van Buggenhout
Griet
G
Centre for Human Genetics, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium. Griet.VanBuggenhout@uzleuven.be
Fryns
Jean-Pierre
JP
D000293:Adolescent; D002648:Child; D025063:Chromosome Disorders / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D038901:X-Linked Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011379:Prognosis; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013577:Syndrome; D055815:Young Adult