Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all
or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most …

Weill–Marchesani syndrome (WMS) is a rare condition characterized by short stature,
brachydactyly, joint stiffness, and characteristic eye abnormalities including …

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …

Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome (BSCL), is a rare
autosomal recessive disease characterized by a near-absence of adipose tissue from birth …

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS
genes have been cloned, they explain only 40–50% of the total mutational load. Here we …

Weill-Marchesani syndrome (WMS) is characterized by the association of short stature;
brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of …

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the
presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction …

Background—Isolated cardiac conduction block is a relatively common condition in young
and elderly populations. Genetic predisposing factors have long been suspected because of …

Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder
characterized by developmental abnormalities of the eye and central nervous system and by …

Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial
aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of> 20 cases reported so far, a …