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Orofaciodigital Syndromes
[OCOSH Code: D009958 52868006 Q87.0 BD_DBD_DO_OFD]

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Mohr Claussen Syndrome Information

Location: http://www.diseasesdatabase.com/ddb31979.htm

Mohr-Claussen syndrome aka/or Oral-facial-digital syndrome type 2 aka/or Orofaciodigital syndrome type 2
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OFD III OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258850

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...
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Oral Facial Digital Syndrome Type 3 Information

Location: http://www.diseasesdatabase.com/ddb31980.htm

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.
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Orofaciodigital Syndrome I Definition

Location: http://www.diseasesdatabase.com/umlsdef.asp?glngUserChoice=29898

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...
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Orofaciodigital Syndrome Type 4

Location: http://www.diseasesdatabase.com/ddb32664.htm

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
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Unique Form of Mental Retardation with a Distinctive Phenotype Shasti Syndrome

Location: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=10677307

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...
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View Details Visit Resource Review It Rate It Bookmark It Added: Sat Nov 18 2006