Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with
various morphologic phenotypes. Apart from physical and functional impairments, the …

Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae
malformations. In recent years, extensive clinical and molecular diagnosis advancements …

Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder
characterized by increased bone fragility and low bone mass. The disorder mostly …

Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal
recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic …

Parkinson's disease (PD) is the second most common and progressive neurodegenerative
disease globally, with major symptoms like bradykinesia, impaired posture, and tremor …

Background Limb‐girdle muscular dystrophy (LGMD) comprises a heterogeneous group of
diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles …

Background Neurological disorders are a common cause of morbidity and mortality within
Pakistani populations. It is one of the most important challenges in healthcare, with …

Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex
congenita (AMC), mostly characterized by having congenital contractures affecting hands …

Abstract Ellis‐van Creveld (EvC) syndrome is an autosomal recessive disease,
characterized by ectodermal, skeletal, and cardiac anomalies. We report intrafamilial …

Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated
with varying types of skeletal dysplasia, including Grebe type chondrodysplasia (GTC) …