Disease relevance of Orofaciodigital Syndromes

• The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, brachymesomelia-renal syndrome, trisomy 13, and the short rib-polydactyly syndromes [1].
• A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Léage and psaume syndrome) [2].

High impact information on Orofaciodigital Syndromes

• X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males [3].
• Two female siblings with the oral-facial-digital type II syndrome, or Mohr syndrome, presented an associated brain malformation: the Dandy-Walker syndrome [4].
• Oral-facial digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first described by Mohr (1941) [5].
• Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome) [6].

Biological context of Orofaciodigital Syndromes

• On the basis of their clinical features and the inheritance pattern, 2 variants were initially distinguished, namely OFDS type I (Papillon-Leage and Psaume) and OFDS type II, or Mohr syndrome [7].

Anatomical context of Orofaciodigital Syndromes

• The authors present a girl with typical characteristics of oral-facial-digital syndrome type II (Mohr syndrome) with a cleft soft palate and pendulous tongue nodules [8].

References