Abstract
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.
Highlights
Lujan syndromeThe Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome (OMIM 309520) is a syndromal X-linked form of mental retardation (mild to moderate mental retardation), associated with tall, marfanoid stature, distinct facial dysmorphism and behavioural problems
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome (OMIM 309520) is a syndromal X-linked form of mental retardation, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioural problems
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
Summary
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome (OMIM 309520) is a syndromal X-linked form of mental retardation (mild to moderate mental retardation), associated with tall, marfanoid stature, distinct facial dysmorphism and behavioural problems. The prevalence in the general population is not known. In the population of mentally retarded patients and psychiatric patients this syndrome might be more frequent and should be considered in the differential diagnosis of schizophrenia [1]. The Lujan-Fryns syndrome is a development disorder of genetic origin. The cause of this condition is not known. Wittine et al [2] described two related males with ventricular septal defect and progressive aortic root dilatation and suggested that this may implicate a mutation in a structural connective tissue gene
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