Orofaciodigital Syndromes (Subscribe)  

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

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...

Jablonski's Syndromes Database Multiple Congenital Anomaly/Mental Retardation

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.

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...

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

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

From Office of Rare Diseases database (entry on Shasti Syndrome)

Links collection

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...

Varadi-Papp syndrome aka/or Orofaciodigital syndrome type 6 Diseases Database