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Orofaciodigital syndrome 1

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Title: Orofaciodigital syndrome 1  
Author: World Heritage Encyclopedia
Language: English
Subject: Ciliopathy, Asphyxiating thoracic dysplasia, McKusick–Kaufman syndrome, Joubert syndrome, Danon disease
Collection: Ciliopathy, Congenital Disorders, Genodermatoses, Rare Diseases
Publisher: World Heritage Encyclopedia

Orofaciodigital syndrome 1

Orofaciodigital syndrome 1
Classification and external resources
OMIM 311200
DiseasesDB 29898
MeSH D009958

Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome,[1] 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.[2]


  • Cause and Genetics 1
    • Relation to other rare genetic disorders 1.1
  • References 2
  • External links 3

Cause and Genetics

Orofaciodigital syndrome type 1 is caused by mutations in the human body. The cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.[2]

Other types include:

Relation to other rare genetic disorders

Recent findings in genetic 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, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus, orofaciodigital syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[2]


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 311200
  2. ^ a b c Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet 7: 125–48.  

External links

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