Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly
associated with orthopedic, ocular, and hearing problems. However, the frequency of …

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 microspherophakia, …

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

Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive
human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (…

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

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 of …

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

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

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 few appear …