/X-linked intellectual disability with marfanoid habitus

X-linked intellectual disability with marfanoid habitus

Rare Disease

MONDO:0010655

Also Known As

Lujan syndromeLujan-Fryns syndromeLujan-Fryns syndrome, X-linked recessiveLUJAN-Fryns syndromeMarfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomaliesintellectual disability, X-linked, with Marfanoid habitusmental retardation, X-linked, with Marfanoid habitus

Definition

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.