The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development.
Types
predominantly preaxial form: Nager AFD
predominantly postaxial form: POADS (Genee-Wiedemann or Miller syndrome)
AFD syndrome of Kelly (AR)
Rodriguez or Madrid form of AFD (AR or XLR)
Reynolds or Idaho form of AFD (AD)
Arens or Tel Aviv type of AFD (AF?)
presumed AR AFD syndrome of Richieri-Costa
AD Patterson-Stevenson-Fontaine syndrome
autosomal or X-linked dominant form of AFD with mental retardation (8266994)
References
Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet. 1993 Oct 1;47(5):660-78. PMID: 8266994