Lujan-Fryns syndrome

Lujan-Fryns syndrome

An X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root. 

Molecular pathology
Caused by defects of MED12, which encodes a protein of the CDK8 subcomplex that modulates polymerase II (POL-II)-mediator complex interactions, thereby regulating transcription initiation and re-initiation rates.
References in periodicals archive ?
Hyperactivity and autistic retardation were reported with Lujan-Fryns syndrome, which is an X-linked mental retardation syndrome progressing with characteristics such as marfanoid habitus, joint laxity, pectus excavatum, and kyphosis.