Lujan Syndrome (LS) is a rare syndrome associated with a mutation in mediator complex subunit 12 (MED12).


Synonyms: Lujan-Fryns Syndrome, X-linked mental retardation with Marfanoid habitus, OKS


Chromosome: Xq13

Gene affected: MED12 with p.Asn1007Ser


Inheritance: X-linked


Clinical features:

(1) The condition affects male offspring of heterozygous female carriers.

(2) intellectual disability with mental retardation

(3) hypotonia

(4) enlarged head (macrocephaly, occipitofrontal head circumference > 75th percentile)

(5) Marfanoid habitus, with tall, thin body (height > 75th percentile)

(6) long hands with hyperextensible digits


Facial features

(1) long, thin face

(2) hypernasal speech

(3) high nasal root

(4) high, narrow palate

(5) short philtrum

(6) micrognathia with dental crowding

(7) maxillary hypoplasia

(8) hypotelorism


Other findings:

(1) dysgenesis of the corpus callosum

(2) hyperactivity, attention-seeking, or other behavioral problems

(3) variable history of seizures


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