E' una malattia genetica rara caratterizzata da lussazione congenita poliarticolare tra cui il Congenital Genu Recurvatum (bilaterale), piede torto, mano torta e caratteristica facies caratterizzata da ipertelorismo, radice del naso depressa, bozza frontale prominente, micrognazia e palatoschisi.
E' dovuta a mutazioni o delezioni del gene FLNB sul cromosoma 3p14.3, trasmessa con carattere autosomico dominante o con carattere recessivo
Bibliografia
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