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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 ...
Scalp defects-postaxial polydactyly syndrome is a very rare genetic disorder which is characterized by congenital defects of the scalp and type A postaxial polydactyly. [1] [2] An additional finding is severe intellectual disability. It is thought to be inherited in an autosomal dominant manner.
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 ...
Pallister–Hall syndrome (PHS) is a rare genetic disorder that affects various body systems. [1] The main features are a non-cancerous mass on the hypothalamus (hypothalamic hamartoma) and extra digits (polydactylism).
Polydactyly – additional fingers or toes [4] Polymelia – an extra arm or leg; Polyorchidism – having three or more testicles [5] Supernumerary bones – these additional bones are fairly common, particularly in the feet, and are frequently mistaken for fractures on x-rays. Supernumerary kidney – a third kidney [6]
McKusick–Kaufman syndrome (associated with postaxial polydactyly) Robinow syndrome (associated with dwarfism) Aarskog–Scott syndrome (associated with facial anomalies) Hand-foot-genital syndrome (associated with limb malformations) Popliteal pterygium syndrome (associated with extensive webbing behind knees)
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]