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The syndrome was originally described by American and Canadian geneticists Philip Pallister and Judith Hall in their research of newborn deaths due to pituitary failure. [3] Subsequent discovery of living children and adults expanded the understanding of the syndrome and established the transmission pattern within families.
Postaxial polydactyly. This is the most common situation, in which the extra digit is on the ulnar side of the hand, thus the side of the little finger. This can also be called postaxial polydactyly. It can manifest itself very subtly, for instance only as a nubbin on the ulnar side of the little finger, or very distinctly, as a fully developed ...
Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit. [ 1 ] [ 2 ]
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, [1] or ciliary function. [2] Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. [3]
Ostravik-Lindemann-Solberg syndrome, also known as heart defect-tongue hamartoma-polysyndactyly syndrome is a rare, multi-systemic genetic disorder which is characterized by congenital heart defects, tongue hamartomas, postaxial polydactyly of the hand, and syndactylism of the foot.
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. [3] The syndrome was first described by Albert Schinzel in 1979. [4]
Symptoms: Having two or more finger/toenails on a single digit: Complications: Social insecurity: Usual onset: Birth (congenital), post-traumatic (acquired) Duration: Life-long (unless it's corrected) Treatment: Plastic surgery: Prognosis: Good: Frequency: polydactyly: 1 in 500-1,000 live births [citation needed] syndactyly: 1 in 2,500-3,000 ...