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

Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders
characterized by abnormal development, remodeling, and growth of the human skeleton's …

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 …

Background: Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately
fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase …

Background Polydactyly is a common genetic limb deformity characterized by the presence
of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a …

Ciliopathies are a clinically and genetically heterogeneous group of disorders often
exhibiting phenotypic overlap and caused by abnormalities in the structure or function of …

Background: Greig cephalopolysyndactyly syndrome (GCPS) is a disorder of autopod and
craniofacial abnormalities. Autopod anomalies include preaxial and/or postaxial polydactyly …

Purpose To investigate complex and different phenotypes in seven Chinese patients
diagnosed with Bardet–Biedl syndrome (BBS) and carrying pathogenic mutations. Methods …

Polydactyly is one of the most common congenital abnormal phenotype of autopod, which is
characterized by extra supernumerary digit in hands/feet with or without well‐developed …

Background: Polydactyly or hexadactyly is a familiar limb defect that either occurs as an
isolated entity (non-syndromic) or is associated with severe (syndromic) morphological …