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.
Other articles related to "orofaciodigital syndrome 1, syndromes, orofaciodigital syndrome, syndrome":
... 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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“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leechs daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (19061989)