Orofaciodigital Syndrome 1

Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.

Read more about Orofaciodigital Syndrome 1:  Cause and Genetics

Other articles related to "orofaciodigital syndrome 1, syndromes, orofaciodigital syndrome, syndrome":

Orofaciodigital Syndrome 1 - Cause and Genetics - Relation To Other Rare Genetic Disorders
... research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact ... Thus, orofaciodigital syndrome is a ciliopathy ... include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome ...

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