http://www.orthopaedicweblinks.com Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. OCOSH Code C05.116.099.370.652_bd_dbd_do_ofd en-us Thu Feb 21 2008 22:43:24 GMT Copyright 2005 OWL Inc. orthopaedicweblinks@gmail.com (Christian Veillette) orthopaedicweblinks@gmail.com (OWL Inc.) http://www.orthopaedicweblinks.com/Detailed/10149.html Mohr-Claussen syndrome aka/or Oral-facial-digital syndrome type 2 aka/or Orofaciodigital syndrome type 2 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10149 http://www.orthopaedicweblinks.com/Detailed/10152.html CLINICAL FEATURES Sugarman et al. (1971) reported a new form of oral-facial-digital syndrome in 2 sisters. Features were mental retardation, eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly of hands and feet, pectus excavatum, short sternum, and kyphosis. One of the sibs showed ceaseless 'see-saw winking' of the eyes. The parents were not related. We have observed a family in which 3 of 4 sibs (2 males, 1 female) were affected. None had 'see-saw' winking. However, all had myoclonic jerks, affected lids, extraocular muscles, arms, etc. Hypertelorism, exotropia, irregular teeth, hamartomatous tongue, postaxial polydactyly, and profound mental retardation were features strikingly like those in Sugarman's cases. The sibs showed severe spasticity. One had a macular red spot, leading some to classify the disorder as cerebromacular degeneration (Ford, 1960). Others had suggested Biedl-Bardet syndrome (209900) as the diagnosis, as often happens when the combination of mental retardation and polydactyly is encountered. 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10152 http://www.orthopaedicweblinks.com/Detailed/10151.html Jablonski's Syndromes Database Multiple Congenital Anomaly/Mental Retardation 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10151 http://www.orthopaedicweblinks.com/Detailed/10150.html Diseases Database Entry aka Oral-facial-digital syndrome type 3 aka/or Orofaciodigital syndrome type 3 or Sugarman Syndrome A syndrome of eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") winking of the eyelids occurring in one of the two sisters in the original report. 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10150 http://www.orthopaedicweblinks.com/Detailed/10147.html orofaciodigital syndrome I: "Abnormalities of the orodental, facial, renal, and digital structures occurring in various combinations and frequently associated with retarded mental development. Patients in the original report were all females, except for the case with Klinefelter syndrome" Source: Online Congenital Multiple Anomaly/Mental Retardation Syndromes, 1999 Synonyms:- Orofaciodigital syndrome type 1 or Papillon-Leage and Psaume syndrome or Gorlin-Psaume syndrome or Oral-facial-digital syndrome type 1 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10147 http://www.orthopaedicweblinks.com/Detailed/10158.html Disease: Orofaciodigital syndrome, Shashi type Synonyms: X-linked mental retardation syndrome with characteristic facial dysmorphic features Mental retardation X-linked syndromic 11 MRXS11 Shashi X-linked mental retardation syndrome Mental retardation X-linked Shashi type SMRXS 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10158 http://www.orthopaedicweblinks.com/Detailed/10153.html Orofaciodigital syndrome type 4 aka/or Baraitser-Burn syndrome aka/or Oral-facial-digital syndrome type 4 aka/or Orofacial-digital syndrome IV Diseases Database 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10153 http://www.orthopaedicweblinks.com/Detailed/10157.html From Office of Rare Diseases database (entry on Shasti Syndrome) 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10157 http://www.orthopaedicweblinks.com/Detailed/10148.html Links collection 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10148 http://www.orthopaedicweblinks.com/Detailed/10156.html We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Am J Hum Genet. 2000 Feb;66(2):469-79 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10156 Shasti et al http://www.orthopaedicweblinks.com/Detailed/10154.html Varadi-Papp syndrome aka/or Orofaciodigital syndrome type 6 Diseases Database 2006-11-18 22:43:24 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10154