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acrofacial dysostoses

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