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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 ...
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.
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 ...
Ectrodactyly-polydactyly syndrome is a very rare congenital limb malformation syndrome of genetic origin which is characterized a combination of ectrodactyly and polydactyly [1] consisting of underdeveloped/absent central rays of the hands or feet alongside postaxial polydactyly in the same limb that can range from a hypoplastic, bone-devoid extra digit to a fully developed supernumerary digit ...
Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. [1] [2] Meckel–Gruber syndrome is named for Johann Meckel and ...
Although all metacarpals (bones of the hand) are present, they are relatively short. [9] Some individuals may have an extra finger on both hands, a condition called bilateral postaxial polydactyly. [10] In the lower limb, the middle segments (tibia and fibula) and the feet are significantly affected. [9]
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]